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  Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene

Rump, P., Jongbloed, J. D., Sikkema-Raddatz, B., Mundlos, S., Klopocki, E., & van der Luijt, R. B. (2011). Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet A, 155A(10), 2566-70. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21910239 http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.34218/asset/34218_ftp.pdf?v=1&t=gyzw71wg&s=5971194ccacc6ce02f5056ac3b10d3fcb9768c88.

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 Urheber:
Rump, P., Autor
Jongbloed, J. D., Autor
Sikkema-Raddatz, B., Autor
Mundlos, S.1, Autor           
Klopocki, E.1, Autor           
van der Luijt, R. B., Autor
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Inhalt

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Schlagwörter: Abnormalities, Multiple/*genetics/*pathology; Adolescent; Base Sequence; Brachydactyly/*radiography; Female; GTP-Binding Protein alpha Subunits, Gs/*genetics; Humans; Molecular Sequence Data; Mutation, Missense/*genetics; Sequence Analysis, DNA; Wrist/*abnormalities
 Zusammenfassung: 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.

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 Datum: 2011
 Publikationsstatus: Erschienen
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Titel: Am J Med Genet A
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 155A (10) Artikelnummer: - Start- / Endseite: 2566 - 70 Identifikator: ISSN: 1552-4833 (Electronic) 1552-4825 (Linking)