English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  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.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7826-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7827-7
Genre: Journal Article

Files

show Files

Locators

show

Creators

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

Content

show
hide
Free keywords: 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
 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.

Details

show
hide
Language(s):
 Dates: 2011
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Am J Med Genet A
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 155A (10) Sequence Number: - Start / End Page: 2566 - 70 Identifier: ISSN: 1552-4833 (Electronic) 1552-4825 (Linking)