Article
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
European journal of human genetics : EJHG - 1 Jan 2022
Bueno André S, Nunes Kelly, Dias Alex M M, Alves Leandro U, Mendes Beatriz C A, Sampaio-Silva Juliana, Smits Jeroen, Yntema Helger G, Meyer Diogo, Lezirovitz Karina, Mingroni-Netto Regina C
Abstract excerpt
We recently described a novel missense variant [c.2090T>G:p.(Leu697Trp)] in the MYO3A gene, found in two Brazilian families with late-onset autosomal dominant nonsyndromic hearing loss (ADNSHL). Since then, with the objective of evaluating its contribution to ADNSHL in Brazil, the variant was screened in additional 101 pedigrees with probable ADNSHL without conclusive molecular diagnosis. The variant was found in...
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