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A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2–5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, ED...
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| Izdano u: | Neural Plast |
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| Glavni autori: | , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hindawi
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7474791/ https://ncbi.nlm.nih.gov/pubmed/32908492 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/9260807 |
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