| Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. | |
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MedLine Citation:
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PMID: 20199465 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care. |
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Authors:
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Sibylle Eigelshoven; Gitta Kameda; Anne-Katrin Kort?m; Simone H?bsch; Wolfgang Angerstein; Preeti Singh; Renate V?hringer; Timm Goecke; Ertan Mayatepek; Thomas Ruzicka; Gabriele Wildhardt; Thomas Meissner; Roland Kruse |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric dermatology Volume: 26 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2009 Nov-Dec |
Date Detail:
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Created Date: 2010-03-04 Completed Date: 2010-06-02 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: 759-61 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Heinrich-Heine-University, D?sseldorf, Germany. Eigelshoven@med.uni-duesseldorf.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anodontia
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genetics,
pathology Child, Preschool Female Hearing Loss, Sensorineural / genetics, pathology Humans Hypopigmentation / genetics, pathology* Iris Diseases / genetics, pathology* Mutation, Missense Paired Box Transcription Factors / genetics Waardenburg's Syndrome / genetics, pathology* |
| Chemical | |
Reg. No./Substance:
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0/PAX3 protein, human; 0/Paired Box Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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