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Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease

✍ Scribed by T. Kusafuka, P. Puri


Book ID
118772301
Publisher
Springer-Verlag
Year
1997
Tongue
English
Weight
553 KB
Volume
12
Category
Article
ISSN
0179-0358

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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