لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Groopman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Glaze C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Russell KA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Regeneron Pharmaceuticals, Tarrytown, NY, 10591, USA., Lee AS; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Andrews C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Shaaban S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wirth MM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Bekele S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Toffoloni M; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Bradford VR; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA., Talkowski ME; Department of Neurology, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA; Department of Radiology, Harvard Medical School, Boston, MA, USA., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. Electronic address: elizabeth.engle@childrens.harvard.edu.

مؤلفون مشاركون: Ocular CCDD Phenotyping Consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul 17, pp. 101216. Date of Electronic Publication: 2024 Jul 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

المؤلفون: Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, Rouen, France; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: francois.lecoquierre@chu-rouen.fr., Punt AM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany; Nantes Université, INSERM, CNRS, l'institut du thorax, Nantes Cedex 1, France., Wallaard I; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Verhagen R; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Moutton S; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Tran Mau-Them F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France., Dean J; Department of Medical Genetics, NHS Grampian, Aberdeen, United Kingdom., Tennant S; NHS Grampian, Genetics & Molecular Pathology Laboratory Services, Aberdeen, United Kingdom., Brooks AS; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Howard Hughes Medical Institute, Chevy Chase, MD., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Howard Hughes Medical Institute, Chevy Chase, MD., England EM; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Howard Hughes Medical Institute, Chevy Chase, MD; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA; Department of Radiology, Harvard Medical School, Boston, MA., Morrow M; GeneDx, Gaithersburg, MD., Innes AM; Alberta Children's Hospital Research Institute for Child and Maternal Health and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Lamont R; Alberta Children's Hospital Research Institute for Child and Maternal Health and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sanderson M; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de référence maladies rares « Déficiences Intellectuelles de Causes Rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Distel B; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Elgersma Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Vitobello A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101119. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Ubiquitin-Protein Ligases*/genetics, Humans ; Female ; Mice ; Male ; Animals ; Child ; Child, Preschool ; Phenotype ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Neurons/metabolism ; Neurons/pathology ; Infant

المؤلفون: Natera-de Benito D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., Jurgens JA; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA., Yeung A; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., DiTroia SP; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Di Gioia SA; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA., Pais L; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Pini V; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Barry BJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Chan WM; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Elder JE; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Department of Ophthalmology, Royal Childrens's Hospital, Parkville, Victoria, Australia., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Hay E; Department of Clinical Genetics, North East Thames Regional Genetic Service, Great Ormond Street Hospital, London, UK., England EM; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Hunter DG; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Feng L; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Ledoux D; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., O'Donnell-Luria A; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Engle EC; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.; Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

المصدر: Human mutation [Hum Mutat] 2022 Apr; Vol. 43 (4), pp. 487-498. Date of Electronic Publication: 2022 Feb 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/diagnosis , Arthrogryposis*/genetics, Face ; Humans ; Muscle, Skeletal ; Mutation ; Phenotype

المؤلفون: Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Shaaban S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA., MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., England EM; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., McMillan HJ; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Kelly C; Pediatric Ophthalmology and Physician Informatics, MultiCare Health System, Tacoma, WA, USA., Pratt BM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., MacArthur DG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Department of Neurology, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.

مؤلفون مشاركون: Care4Rare Canada Consortium

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 May; Vol. 29 (5), pp. 816-826. Date of Electronic Publication: 2021 Mar 01.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Fibrosis/*genetics , Malformations of Cortical Development/*genetics , Ophthalmoplegia/*genetics , Tubulin/*genetics, Adolescent ; Binding Sites ; Child ; Female ; Fibrosis/pathology ; Heterozygote ; Humans ; Kinesins/metabolism ; Male ; Malformations of Cortical Development/pathology ; Mutation, Missense ; Ophthalmoplegia/pathology ; Tubulin/chemistry ; Tubulin/metabolism

SCR Disease Name: Congenital Fibrosis of the Extraocular Muscles