| Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. | |
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MedLine Citation:
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PMID: 23211637 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 22 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2012-12-05 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 13-7 Citation Subset: IM |
Affiliation:
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Departments of aNeurosciences bGenetics cPathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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