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Article

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

The Annals of otology, rhinology, and laryngology - 1 May 2015

Iwasa Yoh-Ichiro, Moteki Hideaki, Hattori Mitsuru, Sato Ririko, Nishio Shin-Ya, Takumi Yutaka, Usami Shin-Ichi

Abstract excerpt

OBJECTIVES: This study aims to document the clinical features of patients with COL11A2 mutations and to describe the usefulness of massively parallel sequencing. METHODS: One thousand one hundred twenty (1120) Japanese hearing loss patients from 53 ENT departments nationwide participated in this study. Massively parallel sequencing of 63 genes implicated in hearing loss was performed to identify the genetic...

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PMID: 25780254
DOI: 10.1177/0003489415575044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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