PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery.

Eur J Hum GenetJul 29, 2026 (epub)
Case ReportMedical GeneticsOpen access

Paria Najarzadeh Torbati, Lukas Hallbrucker, Michaela A H Hofrichter et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Hereditary hearing loss is highly genetically heterogeneous, with emerging overlap between genes implicated in early-onset and age-related hearing loss. We report a consanguineous family with autosomal recessive, non-syndromic hearing loss in which the proband harbors a homozygous splice-site variant in PALM3 NM_001145028.2:c.314+1G>A and a homozygous missense variant in OTOA…

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PubMed · PMID 42527583Free full text on PubMed Central

Published in Eur J Hum Genet. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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