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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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| Vydáno v: | Int J Ophthalmol |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
International Journal of Ophthalmology Press
2019
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| Témata: | |
| On-line přístup: | 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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