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  • Title: Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
    Author: Al-Semari A, Wakil SM, Al-Muhaizea MA, Dababo M, Al-Amr R, Alkuraya F, Meyer BF.
    Journal: Clin Dysmorphol; 2013 Jan; 22(1):13-7. PubMed ID: 23211637.
    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.
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