| Literature DB >> 23211637 |
Abdulaziz Al-Semari1, Salma M Wakil, Mohammad A Al-Muhaizea, Mohammed Dababo, Rana Al-Amr, Fowzan Alkuraya, Brian F Meyer.
Abstract
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.Entities:
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Year: 2013 PMID： 23211637 DOI： 10.1097/MCD.0b013e32835b6dc4
Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816