المؤلفون: Perlman SJ; Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Kulkarni S, Manwaring L, Shinawi M

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Apr; Vol. 161A (4), pp. 711-6. Date of Electronic Publication: 2013 Mar 12.

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: Chromosome Deletion* , Chromosomes, Human, Pair 1* , Haploinsufficiency*, Agenesis of Corpus Callosum/*genetics , Repressor Proteins/*genetics, Agenesis of Corpus Callosum/diagnosis ; Brain/pathology ; Child, Preschool ; Comparative Genomic Hybridization ; Facies ; Female ; Genetic Association Studies ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Magnetic Resonance Imaging ; Phenotype