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Article

Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome.

BMC ophthalmology - 11 Feb 2022

Lin Zhi-Bo, Li Jin, Ye Lu, Sun Hai-Sen, Yu A-Yong, Chen Shi-Hao, Li Fen-Fen

Abstract excerpt

BACKGROUND: Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Although several causative genes have been reported in patients with CCMC, the genetic etiology of CCMC is yet to be clearly understood. PURPOSE: To unravel the genetic cause of autosomal dominant family with CCMC. METHODS: All...

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Identifiers

PMID: 35148715
DOI: 10.1186/s12886-022-02291-4
PMCID: PMC8840263

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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