| Literature DB >> 20199465 |
Sibylle Eigelshoven1, Gitta Kameda, Anne-Katrin Kortüm, Simone Hübsch, Wolfgang Angerstein, Preeti Singh, Renate Vöhringer, Timm Goecke, Ertan Mayatepek, Thomas Ruzicka, Gabriele Wildhardt, Thomas Meissner, Roland Kruse.
Abstract
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.Entities:
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Year: 2009 PMID： 20199465 DOI： 10.1111/j.1525-1470.2009.01033.x
Source DB: PubMed Journal: Pediatr Dermatol ISSN： 0736-8046 Impact factor: 1.588