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SOX10 mutation in Waardenburg syndrome type II

✍ Scribed by Manami Iso; Maki Fukami; Reiko Horikawa; Noriyuki Azuma; Nobuko Kawashiro; Tsutomu Ogata


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
73 KB
Volume
146A
Category
Article
ISSN
1552-4825

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## Abstract __SOX10__ is a member of the __SOX__ gene family related by homology to the high‐mobility group (HMG) box region of the testis‐determining gene __SRY__. Mutations of the transcription factor gene __SOX10__ lead to Waardenburg‐Hirschsprung syndrome (Waardenburg‐Shah syndrome, WS4) in hum