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Cantu syndrome induced by gene mutation: a case report

Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this article, clinical data and gene sequencing re...

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Autor principal: Xu Dong, Huang Yongjian
Formato: Artigo
Idioma:Chinês
Publicado em: Editorial Office of Journal of New Medicine 2022-11-01
Colecção:Xin yixue
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Acesso em linha:https://www.xinyixue.cn/fileup/0253-9802/PDF/1669968384863-1113260953.pdf
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