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The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I

The genovariation of endothelin receptor type B (EDNRB) was identified in a Chinese family with Waardenburg syndrome type I (WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the p...

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Bibliographic Details
Published in:Int J Ophthalmol
Main Authors: Cheng, Huan-Huan, Ling, Shi-Qi, Zhao, Pei-Zhen, Li, Wei-Li, Deng, Juan
Format: Artigo
Language:Inglês
Published: International Journal of Ophthalmology Press 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6739585/
https://ncbi.nlm.nih.gov/pubmed/31544051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2019.09.22
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