Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i
✦ LIBER ✦
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)
✍ Scribed by P.-J. Svensson; Maria Anvret; Marie-Louise Molander; Agneta Nordenskjöld
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 66 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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