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Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Kaifeng Zheng
Sheng Lin
Jian Gao
Shiguo Chen
Jindi Su
Zhiqiang Liu
Shan Duan
Published in:
BMC medical genomics (2024)
We identified a compound heterozygous splicing variant in the MYO15A gene in a Han Chinese family with ARNSHL. Our results broaden the spectrum of MYO15A variants, potentially benefiting the early diagnosis, prevention, and treatment of the disease.
Keyphrases
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copy number
intellectual disability
early onset
hearing loss
genome wide
autism spectrum disorder
dna methylation
smoking cessation