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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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Detalhes bibliográficos
Principais autores: GAO Ruzhen, FAN Yue, FAN Xinmiao, YANG Tengyu, SONG Wenjie, CHEN Xiaowei
Formato: Artigo
Idioma:Chinês
Publicado em: Editorial Office of Journal of Rare Diseases 2023-01-01
Colecção:罕见病研究
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Acesso em linha:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.007
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