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Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV

✍ Scribed by Wang, Hong-Han; Chen, Hong-Sheng; Li, Hai-Bo; Zhang, Hua; Mei, Ling-Yun; He, Chu-Feng; Wang, Xing-Wei; Men, Mei-Chao; Jiang, Lu; Liao, Xin-Bin; Wu, Hong; Feng, Yong


Book ID
122235575
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
666 KB
Volume
538
Category
Article
ISSN
0378-1119

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Identification and functional analysis o
✍ Asma Chaoui; Yuli Watanabe; Renaud Touraine; Viviane Baral; Michel Goossens; Ver πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 659 KB

Waardenburg syndrome (WS) is a rare disorder characterized by pigmentation defects and sensorineural deafness, classified into four clinical subtypes, WS1-S4. Whereas the absence of additional features characterizes WS2, association with Hirschsprung disease defines WS4. WS is genetically heterogene