المؤلفون: Langley KG; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Brown J; George Mason University, Fairfax, Virginia., Gerber RJ; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Neurodevelopmental Pediatrics, Naval Medical Center Portsmouth, Virginia., Fox J; Division of Pediatric Urology, Naval Medical Center Portsmouth, Virginia., Friez MJ; Greenwood Genetic Center, South Carolina., Lyons M; Greenwood Genetic Center, South Carolina., Schrier Vergano SA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Dec; Vol. 167A (12), pp. 3180-5. Date of Electronic Publication: 2015 Sep 04.

نوع المنشور: Case Reports; 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/*genetics , Blepharophimosis/*genetics , Blepharoptosis/*genetics , Craniofacial Abnormalities/*genetics , Eosinophilic Esophagitis/*genetics , Genes, X-Linked/*genetics , Heart Defects, Congenital/*genetics , Intellectual Disability/*genetics , Mediator Complex/*genetics , Muscle Hypertonia/*genetics , Muscular Atrophy/*genetics , Mutation, Missense/*genetics, Abnormalities, Multiple/pathology ; Adult ; Blepharophimosis/pathology ; Blepharoptosis/pathology ; Child ; Craniofacial Abnormalities/pathology ; Eosinophilic Esophagitis/pathology ; Heart Defects, Congenital/pathology ; Humans ; Infant ; Intellectual Disability/pathology ; Male ; Muscle Hypertonia/pathology ; Muscular Atrophy/pathology ; Phenotype ; Prognosis

SCR Disease Name: Blepharophimosis syndrome Ohdo type; Facial Dysmorphism with Multiple Malformations

المؤلفون: Zhou H; Department of Molecular and Cell Biology, Howard Hughes Medical Institute, University of California, Berkeley, CA 94270, USA., Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2012 Nov 27; Vol. 109 (48), pp. 19763-8. Date of Electronic Publication: 2012 Oct 22.

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

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Hedgehog Proteins/*metabolism , Intellectual Disability/*genetics , Kruppel-Like Transcription Factors/*physiology , Mediator Complex/*physiology , Nerve Tissue Proteins/*physiology , Signal Transduction/*physiology, Cell Line ; Humans ; Promoter Regions, Genetic ; Zinc Finger Protein Gli3

المؤلفون: Clark RD; Division of Medical Genetics, Department of Pediatrics, Loma Linda University Medical Center, Loma Linda, CA 92354, USA. ltigard@llu.edu, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2009 Nov; Vol. 11 (11), pp. 769-75.

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

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

مواضيع طبية MeSH: Abnormalities, Multiple/*diagnosis , Chromosomes, Human, X/*genetics , Genetic Diseases, X-Linked/*diagnosis , Mediator Complex/*genetics, Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Genetic Diseases, X-Linked/genetics ; Humans ; Male ; Mutation ; Pedigree ; Young Adult