| Lower lip pits in a patient with van der Woude syndrome. | |
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MedLine Citation:
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PMID: 20818247 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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van der Woude syndrome (VWS) is a congenital malformation characterized by lower lip pits with or without cleft lip or cleft palate. It is an autosomal-dominant inherited disorder with variable expression in clinical manifestation. Microdeletion in chromosome bands 1q32-q41 and recently identified mutation in interferon regulatory factor 6 gene (IRF6) have been reported to cause VWS. We report a case of VWS with lower lip pits as its main clinical manifestation without associated cleft in lip or palate. No mutation or deletion was found in the IRF6 gene or promoter site, indicating the heterogeneity of this defect. |
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Authors:
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Shahram Baghestani; Naser Sadeghi; Majid Yavarian; Hekmat Alghasi |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Journal of craniofacial surgery Volume: 21 ISSN: 1536-3732 ISO Abbreviation: J Craniofac Surg Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-21 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: United States |
Other Details:
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Languages: eng Pagination: 1380-1 Citation Subset: D |
Affiliation:
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Department of Dermatology, Hormozgan University of Medical Sciences, Bandar Abbas, Iran. swt_f@yahoo.com |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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