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

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50386

Klopocki,  E.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

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.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-7826-9
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.