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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Sci Rep
मुख्य लेखकों: Sun, Lianhua, Li, Xiaohua, Shi, Jun, Pang, Xiuhong, Hu, Yechen, Wang, Xiaowen, Wu, Hao, Yang, Tao
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2016
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5069774/
https://ncbi.nlm.nih.gov/pubmed/27759048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep35498
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