Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

Jing ZhangJing GuanHongyang WangLinwei YinDayong WangLidong ZhaoHuifang ZhouQiuju Wang

Published in: BMC medical genetics (2019)

Our work extended the MYO15A variant spectrum, enriched our knowledge of auditory phenotypes, and tried to explore the genotype-phenotype correlation in different populations in order to investigate the cause of the complex MYO15A genotype-phenotype correlation.

Keyphrases

hearing loss
intellectual disability
healthcare
copy number
working memory
gene expression
autism spectrum disorder
genetic diversity