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Article

Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.

Auris, nasus, larynx - 1 Dec 2016

Minami Shujiro B, Mutai Hideki, Namba Kazunori, Sakamoto Hirokazu, Matsunaga Tatsuo

Abstract excerpt

OBJECTIVE: To report two novel LOXHD1 mutations, including missense mutations and the clinical features of the patients. METHODS: We studied a three-generation Japanese family with hearing loss. Targeted next-generation sequencing was used for genetic analysis. Conditional orientation response audiometry and pure tone audiometry were used to assess hearing. SWISS-MODEL was used for molecular modeling of the PLAT...

Read the complete abstract on PubMed

Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26973026
DOI: 10.1016/j.anl.2016.02.010

Genes

LOXHD1
PLAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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