title: Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
authors: Muhammad
authors: M
authors: Wajid
authors: Hisham
authors: H
authors: Bazzi
authors: Jonathan
authors: J
authors: Rockey
authors: Jillian
authors: J
authors: Lubetkin
authors: Abraham
authors: A
authors: Zlotogorski
authors: Angela M
authors: AM
authors: Christiano
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D051182:Desmogleins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype
chemical_list: C473409:DSG4 protein, human; D051182:Desmogleins