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MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
MITF is a known gene underlying autosomal dominant hearing loss, Waardenburg syndrome (WS). Biallelic MITF mutations have been found associated with a rare hearing loss syndrome consisting eye abnormalities and albinism; and a more severe type of WS whose heterozygous parents were affected with clas...
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| Publicat a: | Sci Rep |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7391749/ https://ncbi.nlm.nih.gov/pubmed/32728090 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-69633-4 |
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