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Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome

โœ Scribed by Raheela Jabeen; Masroor Ellahi Babar; Jamil Ahmad; Ali Raza Awan


Book ID
106471097
Publisher
Springer
Year
2011
Tongue
English
Weight
208 KB
Volume
39
Category
Article
ISSN
0301-4851

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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