Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.

Authors: Al-Semari, A  Wakil, SM  Al-Muhaizea, MA  Dababo, M  Al-Amr, R  Alkuraya, F  Meyer, BF 
Citation: Al-Semari A, etal., Clin Dysmorphol. 2013 Jan;22(1):13-7. doi: 10.1097/MCD.0b013e32835b6dc4.
Pubmed: (View Article at PubMed) PMID:23211637
DOI: Full-text: DOI:10.1097/MCD.0b013e32835b6dc4

In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.

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CRRD Object Information
CRRD ID: 11554030
Created: 2016-10-19
Species: All species
Last Modified: 2016-10-19
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.