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A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

✍ Scribed by Jean-Baptiste Rivière; Dominique J. Verlaan; Masoud Shekarabi; Ronald G. Lafrenière; Mélanie Bénard; Vazken M. Der Kaloustian; Zuhayr Shbaklo; Guy A. Rouleau


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
131 KB
Volume
56
Category
Article
ISSN
0364-5134

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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