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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

✍ Scribed by Edery, Patrick; Attie, Tania; Amiel, Jeanne; Pelet, Anna; Eng, Charis; Hofstra, Robert M.W.; Martelli, Helene; Bidaud, Christelle; Munnich, Arnold; Lyonnet, Stanislas


Book ID
118675999
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
319 KB
Volume
12
Category
Article
ISSN
1061-4036

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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