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Article

Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.

International journal of pediatric otorhinolaryngology - 1 Jul 2014

Jin Young Ju, Park Jaehong, Kim Ah Reum, Rah Yoon Chan, Choi Byung Yoon

Abstract excerpt

PURPOSE: (1) To describe the frequency of the OTOF mutations among Korean ARNSHL (autosomal recessive nonsyndromic hearing loss) populations; (2) to report the vertical transmission of DFNB9 in a family, where two related DFNB9 patients in the family manifested a different audiological phenotype. METHOD: We analyzed the prevalence of OTOF mutations among 71 Korean sporadic or possible ARNSHL pediatric patients,...

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Source

Identifiers

PMID: 24814232
DOI: 10.1016/j.ijporl.2014.03.033

Genes

OTOF
PJVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.PMID 24814232Read ↗

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