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Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease

✍ Scribed by M Inoue; K Hosoda; K Imura; S Kamata; M Fukuzawa; K Nakao; A Okada


Book ID
117160761
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
544 KB
Volume
33
Category
Article
ISSN
0022-3468

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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