title: Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.
abstract: Congenital duplication of the palm is a rare syndrome with the following features: the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its gene analysis identifying the responsible gene mutation in exon 4 of the WNT7a gene, and detail the molecular basis of its clinical features.
authors.affiliation: Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. moqattan@hotmail.com
authors.forename: M M
authors.initials: MM
authors.lastname: Al-Qattan
authors.forename: M
authors.initials: M
authors.lastname: Al-Balwi
authors.forename: W
authors.initials: W
authors.lastname: Eyaid
authors.forename: I
authors.initials: I
authors.lastname: Al-Abdulkarim
authors.forename: S
authors.initials: S
authors.lastname: Al-Turki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C092778:WNT7A protein, human; D051153:Wnt Proteins