| Literature DB >> 9584079 |
C Wang1, E Kim, A Attaie, T N Smith, E R Wilcox, A K Lalwani.
Abstract
Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2. Copyright 1998 Academic Press LimitedEntities:
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Year: 1998 PMID： 9584079 DOI： 10.1006/mcpr.1997.0149
Source DB: PubMed Journal: Mol Cell Probes ISSN： 0890-8508 Impact factor: 2.365