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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Detalles Bibliográficos
Autores principales: Yang, Shuzhi, Dai, Pu, Liu, Xin, Kang, Dongyang, Zhang, Xin, Yang, Weiyan, Zhou, Chengyong, Yang, Shiming, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806753/
https://www.ncbi.nlm.nih.gov/pubmed/24194866
http://dx.doi.org/10.1371/journal.pone.0077149

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