## Abstract Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation
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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📜 SIMILAR VOLUMES
Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS
## 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