190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2013-12, Vol.84 (6), p.596-599
Hauptverfasser:	Coutton, C, Bidart, M, Rendu, J, Devillard, F, Vieville, G, Amblard, F, Lopez, G, Jouk, P-S, Satre, V
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Chromosome Duplication Chromosomes, Human, Pair 1 Comparative Genomic Hybridization Facies Female Humans Infant Intellectual Disability - diagnosis Intellectual Disability - genetics Limb Deformities, Congenital - diagnosis Limb Deformities, Congenital - genetics Mannosyltransferases - genetics Nuclear Proteins - genetics Phenotype Transcription Factors - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!