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Article

Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.

Scientific reports - 22 Aug 2017

Huang Xiu-Feng, Huang Zhi-Qin, Lin Dan, Dai Ma-Li, Wang Qing-Feng, Chen Zhen-Ji, Jin Zi-Bing, Wang Yuqin

Abstract excerpt

Ocular coloboma is a common eye malformation arising from incomplete closure of the human optic fissure during development. Multiple genetic mutations contribute to the disease process, showing extensive genetic heterogeneity and complexity of coloboma spectrum diseases. In this study, we aimed to unravel the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis. The subjects were...

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Source

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Identifiers

PMID: 28831107
DOI: 10.1038/s41598-017-09276-0
PMCID: PMC5567291

Genes

RAX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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