| Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. | |
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MedLine Citation:
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PMID: 21412975 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. Bifid tongue and congenital corneal clouding have each only been described once previously in a patient with OPD2, and this is the first description of Dandy-Walker malformation (DWM) in OPD2. The presence of these clinical findings in a mutation-confirmed case of OPD2 supports the notion that corneal clouding, bifid tongue, and DWM are part of the constellation of abnormalities caused by mutations in FLNA. © 2011 Wiley-Liss, Inc. |
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Authors:
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Maureen Murphy-Ryan; Dusica Babovic-Vuksanovic; Noralane Lindor |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-15 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-17 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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Mayo Medical School, Rochester, Minnesota. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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