| Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Associated With p63 Mutation and an Uncommon Phenotype. | |
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MedLine Citation:
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PMID: 20180707 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Abstract Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27-29 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome. |
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Authors:
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Lívia Máris Ribeiro Paranaíba; Hercílio Martelli-Júnior; Roseli Teixeira de Miranda; Andréia Bufalino; Ruy Camargo Abdo Filho; Ricardo D Coletta |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Volume: 47 ISSN: 1545-1569 ISO Abbreviation: Cleft Palate Craniofac. J. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-08 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102566 Medline TA: Cleft Palate Craniofac J Country: United States |
Other Details:
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Languages: eng Pagination: 544-7 Citation Subset: D; IM |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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