Article
Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
Genes - 26 Sept 2021
Li Songshan, Wang You, Sun Limei, Yan Wenjia, Huang Li, Zhang Zhaotian, Zhang Ting, Ding Xiaoyan
Abstract excerpt
Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the COL18A1 gene. This study aimed to investigate novel variants of COL18A1 in Knobloch syndrome and describe the associated phenotypes in Chinese patients. We reported six patients with Knobloch syndrome from four unrelated families in whom we...
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