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Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

✍ Scribed by Kusafuka, T


Book ID
121877092
Publisher
Oxford University Press
Year
1996
Tongue
English
Weight
48 KB
Volume
5
Category
Article
ISSN
0964-6906

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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