Document Detail

Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
MedLine Citation:
PMID:  23211637     Owner:  NLM     Status:  In-Data-Review    
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.
Abdulaziz Al-Semari; Salma M Wakil; Mohammad A Al-Muhaizea; Mohammed Dababo; Rana Al-Amr; Fowzan Alkuraya; Brian F Meyer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  22     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2012-12-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  13-7     Citation Subset:  IM    
Departments of aNeurosciences bGenetics cPathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
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