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Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene
Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to p...
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| Publicado no: | Biosci Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8217986/ https://ncbi.nlm.nih.gov/pubmed/33345266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20193375 |
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