المؤلفون: Adviento B; Department of Psychiatry, University of California San Francisco, San Francisco, California, USA., Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA

المصدر: Journal of medical genetics [J Med Genet] 2014 Jan; Vol. 51 (1), pp. 10-20. Date of Electronic Publication: 2013 Oct 07.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Quantitative Trait, Heritable*, Autistic Disorder/*genetics , Costello Syndrome/*genetics , Ectodermal Dysplasia/*genetics , Failure to Thrive/*genetics , Heart Defects, Congenital/*genetics , Noonan Syndrome/*genetics , ras Proteins/*genetics, Adolescent ; Adult ; Autistic Disorder/diagnosis ; Child ; Costello Syndrome/diagnosis ; Diagnosis, Differential ; Ectodermal Dysplasia/diagnosis ; Facies ; Failure to Thrive/diagnosis ; Female ; Heart Defects, Congenital/diagnosis ; Humans ; Male ; Middle Aged ; Mitogen-Activated Protein Kinases/metabolism ; Mutation ; Neuropsychological Tests ; Noonan Syndrome/diagnosis ; Patient Outcome Assessment ; Phenotype ; Prevalence ; Sex Factors ; Siblings ; Signal Transduction ; Surveys and Questionnaires ; Young Adult ; ras Proteins/metabolism

SCR Disease Name: Cardiofaciocutaneous syndrome