Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

Nan Du,1 Xiaolei Wang,1 Zhaohui Wang,2 Hongwei Liu,1 Hui Liu,1 Hongfang Duan,1 Shaozhi Zhao,1 Santasree Banerjee,3 Xinwen Zhang1 1Department of Medical Genetics, Xi’an People’s Hospital (Xi’an Fourth Hospital), Xi’an, Shaanxi, 710004, People’s Republic of China; 2Center for Children Health Care, Xi’...

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Hlavní autoři:	Du N, Wang X, Wang Z, Liu H, Duan H, Zhao S, Banerjee S, Zhang X
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Dove Medical Press 2024-05-01
Edice:	The Application of Clinical Genetics
Témata:	charcot-marie-tooth disease mtmr2 gene novel mutation homozygous whole exome sequencing
On-line přístup:	https://www.dovepress.com/identification-of-a-novel-homozygous-mutation-in-mtmr2-gene-causes-ver-peer-reviewed-fulltext-article-TACG
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