المؤلفون: Kalantari S; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Department of Clinical Research, University Hospital Basel, Basel, Switzerland., Carlston C; Division of Medical Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Alsaleh N; Division of Medical Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan., Yamamoto T; Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Japan., Fares-Taie L; INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, Paris, France., Rozet JM; INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, Paris, France., Chassaing N; Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France., Vincent-Delorme C; Department of Clinical Genetics, CHU Lille, Lille, France., Kang-Bellin A; Centre for Prenatal Ultrasound, Basel, Switzerland., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, Maryland, USA., Bupp C; Spectrum Health, Grand Rapids, Michigan, USA., Palen E; Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA., Wagner MD; Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cesario C; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Milone R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy., Kaplan J; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA., Wadman E; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA., Dobyns WB; Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Filges I; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Department of Clinical Research, University Hospital Basel, Basel, Switzerland.; University of Basel, Basel, Switzerland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3728-3739. Date of Electronic Publication: 2021 Aug 03.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Brain/*metabolism , Kinesins/*genetics , Urogenital Abnormalities/*genetics , Vesico-Ureteral Reflux/*genetics, Abnormalities, Multiple/pathology ; Brain/abnormalities ; Brain/pathology ; Epilepsy/genetics ; Epilepsy/pathology ; Female ; Genetic Association Studies ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Neurons/metabolism ; Neurons/pathology ; Phenotype ; Urogenital Abnormalities/pathology ; Vesico-Ureteral Reflux/pathology

SCR Disease Name: Cakut

المؤلفون: Hampshire K; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Carlston C; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Aug; Vol. 182 (8), pp. 1923-1932. Date of Electronic Publication: 2020 Jun 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*diagnosis , Actins/*genetics , Craniofacial Abnormalities/*diagnosis , Epilepsy/*diagnosis , Intellectual Disability/*diagnosis , Lissencephaly/*diagnosis, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adult ; Coloboma/diagnosis ; Coloboma/genetics ; Coloboma/pathology ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/pathology ; Epilepsy/genetics ; Epilepsy/pathology ; Facies ; Female ; Germ-Line Mutation/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Lissencephaly/genetics ; Lissencephaly/pathology ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Microcephaly/pathology ; Middle Aged ; Mosaicism ; Mutation, Missense/genetics ; Siblings

SCR Disease Name: Cerebrofrontofacial Syndrome; Fryns-Aftimos Syndrome