TY  - GEN
AU  - Yan,Xukun
AU  - Zhang,Tianyu
AU  - Wang,Zhengmin
AU  - Jiang,Yi
AU  - Chen,Yan
AU  - Wang,Hongyan
AU  - Ma,Duan
AU  - Wang,Lei
AU  - Li,Huawei
TI  - A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II
SN  - 1673-8527
PY  - 2012///0417
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Amino Acid Sequence
KW  - Audiometry
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Connexin 26
KW  - Connexins
KW  - genetics
KW  - DNA Mutational Analysis
KW  - DNA, Mitochondrial
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Microphthalmia-Associated Transcription Factor
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - RNA, Ribosomal
KW  - Sequence Alignment
KW  - Waardenburg Syndrome
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jgg.2011.11.003
ER  -