Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than...

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Detalhes bibliográficos
Main Authors: Yang, Shuzhi, Dai, Pu, Liu, Xin, Kang, Dongyang, Zhang, Xin, Yang, Weiyan, Zhou, Chengyong, Yang, Shiming, Yuan, Huijun
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3806753/
https://ncbi.nlm.nih.gov/pubmed/24194866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0077149
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