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Article

Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Orphanet journal of rare diseases - 31 May 2021

Duan Xiaohui, Liu Xiaoxuan, Wang Guochun, Gu Weihong, Xu Min, Hao Ying, Dong Mingrui, Sun Qing, Sun Shaojie, Chen Yuanyuan, Wang Wei, Li Jing, Zhang Yuting, Cao Zhenhua, Fan Dongsheng, Wang Renbin, Da Yuwei

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe the phenotypic-genetic spectrum of MORC2-related diseases in the Chinese population. METHODS: With the use of Sanger...

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Identifiers

PMID: 34059105
DOI: 10.1186/s13023-021-01881-7
PMCID: PMC8166055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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