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Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional famil...

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Detalles Bibliográficos
Autores principales: Sun, Lianhua, Li, Xiaohua, Shi, Jun, Pang, Xiuhong, Hu, Yechen, Wang, Xiaowen, Wu, Hao, Yang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069774/
https://www.ncbi.nlm.nih.gov/pubmed/27759048
http://dx.doi.org/10.1038/srep35498