| Autor: |
Wang, Cynthia, Kim, Eugene, Attaie, Ali, Smith, Tenesha N, Wilcox, Edward R, Lalwani, Anil K |
| Zdroj: |
Molecular and Cellular Probes; February 1998, Vol. 12 Issue: 1 p55-57, 3p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
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