[A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II].
Feng
Yong
Y
fyong@xysm.net
Liu
Zheng-zheng
ZZ
Hu
Hao
H
D000293:Adolescent; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D009154:Mutation; D014849:Waardenburg Syndrome / Q000235:genetics*
C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor