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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Veröffentlicht in:Scientific reports 2020-07, Vol.10 (1), p.12712-12712, Article 12712
Hauptverfasser: Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
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