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Article

Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family: A case report.

Medicine - 1 Jun 2017

Feng Lei, Zhou Daizhan, Zhang Zhou, He Lin, Liu Yun, Yang Yabo

Abstract excerpt

INTRODUCTION: Severe myopic anisometropia has been identified to have heritability, but the pathogenesis of anisometropia still remains obscure. CASE DESCRIPTION: Here, we presented a Chinese severe myopic anisometropia family with 5 members affected. Though using the exome sequencing, we identified a novel mutation in the UNC5D gene (c.1297C>T, p.R433C), which was predicted to have a damage effect on the protein...

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PMID: 28614238
DOI: 10.1097/MD.0000000000007138
PMCID: PMC5478323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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