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

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 phen...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
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Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8166055/
https://ncbi.nlm.nih.gov/pubmed/34059105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01881-7
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