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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Detalles Bibliográficos
Autores principales: Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7391749/
https://www.ncbi.nlm.nih.gov/pubmed/32728090
http://dx.doi.org/10.1038/s41598-020-69633-4

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