title: Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
abstract: Madelung deformity, a congenital anomaly of the wrist with subluxation of the ulna head, is not a widely recognized feature of Albright hereditary osteodystrophy. Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E-like brachydactyly, in whom we identified a novel and de novo mutation (c.476T>C; p.Val159Ala) in exon 6 of the GNAS gene.
authors: Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands. p.rump@medgen.umcg.nl
authors: Patrick
authors: P
authors: Rump
authors: Jan D H
authors: JD
authors: Jongbloed
authors: Birgit
authors: B
authors: Sikkema-Raddatz
authors: Stefan
authors: S
authors: Mundlos
authors: Eva
authors: E
authors: Klopocki
authors: Rob B
authors: RB
authors: van der Luijt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D001483:Base Sequence; D059327:Brachydactyly / Q000000981:diagnostic imaging*; D002864:Chromogranins; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA; D014953:Wrist / Q000002:abnormalities*
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs