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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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of New Medicine
2022-11-01
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| Series: | Xin yixue |
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| Online Access: | https://www.xinyixue.cn/fileup/0253-9802/PDF/1669968384863-1113260953.pdf |