title: Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene.
authors: S
authors: S
authors: Ahmad
authors: H
authors: H
authors: Mahmoudi
authors: M
authors: M
authors: Naeem
authors: R C
authors: RC
authors: Betz
mesh_terms: D000052:Acanthosis Nigricans / Q000235:genetics*; D015703:Antigens, CD / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C496365:FGFR3 protein, human; C435941:INSR protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3; D011972:Receptor, Insulin