Genetic Analysis of a Family with Mohr-Tranebjaerg Syndrome

Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare Mohr-Tranebjaerg syndrome. Methods We collected t...

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Bibliografiske detaljer

Principais autores:	GAO Ruzhen, FAN Yue, FAN Xinmiao, YANG Tengyu, SONG Wenjie, CHEN Xiaowei
Format:	Artigo
Sprog:	Chinês
Udgivet:	Editorial Office of Journal of Rare Diseases 2023-01-01
Serier:	罕见病研究
Fag:	mohr-tranebjaerg syndrome timm8a gene whole exome sequencing
Online adgang:	https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.007
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