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A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A–C)...
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| Izdano u: | Sci Rep |
|---|---|
| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5269737/ https://ncbi.nlm.nih.gov/pubmed/28128317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep41513 |
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