Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome

Author:

Chen Dingli,Li Shouxia,Li Shurui,Song Xuedong,Guo Lili,Zhang Xiaofang,Sun Caixia,Zhao Subin

Funder

Science and Technology Project of Hebei Province

Science and Technology Research and Development Program of Handan

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference21 articles.

1. A new syndrome combination developmental anomalies of the eyelids, eyebrows and nose root with pigmental defects of the iris and head hair and with congenital deafness;Waardenburg;Am. J. Hum. Genet.,1951

2. Renew and update of mutations causing Waardenburg syndrome;Pingault;Hum. Mutat.,2010

3. Waardenburg syndrome: clinical differentiation between types I and II;Pardono;Am. J. Med. Genet.,2003

4. SOX10 mutation in Waardenburg syndrome type II;Iso;Am. J. Med. Genet PartA,2008

5. Adipose tissue mass is modulated by SLUG (SNAI2);Perez-Mancera;Hum. Mol. Genet.,2007

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