title: Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair.
authors: F J D
authors: FJ
authors: Smith
authors: N J
authors: NJ
authors: Wilson
authors: C
authors: C
authors: Moss
authors: P
authors: P
authors: Dopping-Hepenstal
authors: J
authors: J
authors: McGrath
mesh_terms: D002675:Child, Preschool; D051180:Desmoplakins / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006201:Hair Diseases / Q000151:congenital* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D051180:Desmoplakins