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Article

Novel compound heterozygous mutations in CYP1B1 identified in a Chinese family with developmental glaucoma.

Molecular medicine reports - 1 Nov 2021

Cai Suping, Zhang Daren, Jiao Xiaodong, Wang Tingting, Fan Mengjie, Wang Yun, Hejtmancik James Fielding, Liu Xuyang

Abstract excerpt

Developmental glaucoma, a subset of glaucoma, is associated with trabeculodysgenesis and/or anterior segment dysgenesis. It is one of the major causes of childhood blindness. Understanding its genetic background is important to diagnose, and identify potential therapeutic targets, of this disease. The present study aimed to detect the molecular origin of developmental glaucoma in a Chinese pedigree and its...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34528698
DOI: 10.3892/mmr.2021.12443
PMCID: PMC8764508

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