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Article

[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Gao Xuyuan, Tang Yongping, Chi Zailong

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic characteristics in two children with Knobloch syndrome (KNO) due to variants of COL18A1 gene. METHODS: Two children presented at the Genetic Eye Disease Clinic of the Eye Hospital of Wenzhou Medical University in October 2023 for ocular lesions were selected as the study subjects. Relevant clinical data and peripheral venous blood samples were collected...

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Identifiers

PMID: 41645371
DOI: 10.3760/cma.j.cn511374-20250411-00215

Genes

COL18A1

Variants

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