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Article

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Scientific reports - 1 Apr 2024

Ruan Dan-Dan, Ruan Xing-Lin, Wang Ruo-Li, Lin Xin-Fu, Zhang Yan-Ping, Lin Bin, Li Shi-Jie, Wu Min, Chen Qian, Zhang Jian-Hui, Cheng Qiong, Zhang Yi-Wu, Lin Fan, Luo Jie-Wei, Zheng Zheng, Li Yun-Fei

Abstract excerpt

Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can affect myelin development in the central nervous system. This study aims to analyze the clinical phenotype and genetic function of a family with HLD-7 caused by POLR3A mutation. The proband (IV6) in this family mainly showed progressive cognitive decline, dentin dysplasia, and hypogonadotropic hypogonadism. Her three old...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38561452
DOI: 10.1038/s41598-024-58452-6
PMCID: PMC10985069

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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