title: Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder.
authors: North West Thames Regional Genetics Service (Kennedy Galton Centre), Northwick Park Hospital, NWLH NHS Trust, Harrow Departments of Paediatrics Community Paediatrics, Hillingdon Hospital, Uxbridge, Middlesex Departments of Ophthalmology Audiological Medicine, Great Ormond Street Hospital, London, UK Molecular Genetics Laboratory, University of Munich, Munich, Germany.
authors: Amanda J
authors: AJ
authors: Kilsby
authors: Michele
authors: M
authors: Cruwys
authors: Chelvi
authors: C
authors: Kukendrajah
authors: Isabelle
authors: I
authors: Russell-Eggitt
authors: Ewa
authors: E
authors: Raglan
authors: Kaukab
authors: K
authors: Rajput
authors: Peter
authors: P
authors: Loshe
authors: Angela F
authors: AF
authors: Brady
mesh_terms: D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005091:Exons; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016116:Piebaldism / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics
chemical_list: D019009:Proto-Oncogene Proteins c-kit