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Article

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.

BMC ophthalmology - 3 Sept 2020

Fan Fan, Luo Yi, Wu Jihong, Gao Chao, Liu Xin, Mei Hengjun, Zhou Xiyue

Abstract excerpt

BACKGROUND: Congenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients. METHODS: Patients (n = 53) who were clinically diagnosed with CC and their parents were recruited. Blood samples were collected in our hospital....

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Source

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Identifiers

PMID: 32883240
DOI: 10.1186/s12886-020-01567-x
PMCID: PMC7469093

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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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