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Article

A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review.

Medicine - 24 Apr 2026

Li Zhangyi, Ke Shurui, Wan Wenjuan, Sun Ji, Hu Ke, Li Can

Abstract excerpt

RATIONALE: Microphthalmia, anophthalmia, and coloboma (MAC) form a spectrum of severe developmental eye anomalies. Reports of human MAC associated with RAX mutations remain limited, exhibiting substantial phenotypic heterogeneity. Clinically managing these ocular anomalies or investigating their genetic mechanisms continues to present significant challenges. PATIENT CONCERNS: A 28-year-old female and her 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42071822
DOI: 10.1097/MD.0000000000048361
PMCID: PMC13124414

Genes

RAX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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