| Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. | |
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MedLine Citation:
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PMID: 21739585 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley-Liss, Inc. |
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Authors:
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Laura Pilozzi-Edmonds; Thomas A Maher; Raveen K Basran; Aubrey Milunsky; Khalid Al-Thihli; Nancy E Braverman; Ahmed Alfares |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-7 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-7-8 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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