Article

<i>PKHD1L1</i>, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

2023-10-09

Abstract excerpt

Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. PKHD1L1 was established as necessary for the formation of the cochlear hair-cell stereociliary coat and causes hearing loss in mice and zebrafish when mutated. We sought to determine if biallelic variants in...

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Literature Corpus work: bdf6732d-acdd-56eb-b39f-0803b11a5cb4
DOI: 10.1101/2023.10.08.23296081

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