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Article

Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.

Molecular vision - 1 Jan 2024

Zhang Xin, Xu Ke, Shi Jie, Xie Yue, Li Nien, Yan Weiyu, Jin Zi-Bing, Li Yang

Abstract excerpt

Purpose: The neuronal ceroid lipofuscinoses (NCLs) comprise a group of inherited neurodegenerative disorders with thirteen NCL-disease causing genes ceroid lipofuscinosis neuronal (CLN) identified. The purpose of this study was to describe the genetic and clinical characteristics of a cohort of Chinese patients harboring biallelic variants in the CLN genes. Methods: We recruited 14 patients from 13 unrelated...

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PMID: 39563673
PMCID: PMC11575837

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