Article
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.
Human genetics - 1 Apr 2022
Oziębło Dominika, Lee Sang-Yeon, Leja Marcin Ludwik, Sarosiak Anna, Bałdyga Natalia, Skarżyński Henryk, Kim Yehree, Han Jin Hee, Yoo Hyo Soon, Park Min Hyun, Choi Byung Yoon, Ołdak Monika
Abstract excerpt
Novel hearing loss (HL) genes are constantly being discovered, and evidence from independent studies is essential to strengthen their position as causes of hereditary HL. To address this issue, we searched our genetic data of families with autosomal dominant HL (ADHL) who had been tested with high-throughput DNA sequencing methods. For CD164, only one pathogenic variant in one family has so far been reported. For...
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