| Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome: A Novel p63 Mutation Associated with Generalized Neonatal Erosions. | |
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MedLine Citation:
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PMID: 20738799 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts. Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp involvement, facial clefting but notably without ankyloblepharon. Mutational analysis of the p63 gene showed a novel heterozygous T>C nucleotide substitution on exon 14 (I597T). To our knowledge, this is a novel mutation that has not previously been reported in the pathogenesis of AEC, or other p63-related syndromes. This case further highlights the clinical and genetic heterogeneity of p63 syndromes. |
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Authors:
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Shilpa S Sawardekar; Andrea L Zaenglein |
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Publication Detail:
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Type: Journal Article Date: 2010-08-04 |
Journal Detail:
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Title: Pediatric dermatology Volume: 28 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-05-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 313-7 Citation Subset: IM |
Copyright Information:
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© 2010 Wiley Periodicals, Inc. |
Affiliation:
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Penn State University College of Medicine Penn State/Milton S. Hershey Medical Center, Departments of Dermatology and Pediatrics, Hershey, Pennsylvania, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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