Article

Recessive LOXHD1 Variants Cause a Milder Prelingual Hearing Loss: Genotype-Phenotype Correlation and Three Additional Patients With Novel Variants

2020-11-06

Abstract excerpt

<title>Abstract</title> BackgroundBiallelic mutations in <italic>LOXHD1</italic> have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a novel, progressive, severe-profound, and late-onset non-syndromic hearing loss, and is genetically and phenotypically highly heterogeneous. This study aimed to provide an additional three cases of DFNB77 to analyze this complex disease.MethodsW...

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Literature Corpus work: 952bb1f7-7771-5f66-b413-36226c0cebe1
DOI: 10.21203/rs.3.rs-101502/v1

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