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Updated: Jun 28, 2025

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鉴定了与面显微症相关的 de novo PUF60 变体

Takuya Ogawa1, Jingyi Xue2,3, Long Guo2,4

  • 1Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

American journal of medical genetics. Part A
|April 22, 2024
PubMed
概括

在巴西一家患有面显微症 (CFM) 的家庭中发现了PUF60的遗传变异. 这一发现扩大了已知的PUF60相关疾病的范围,将其与CFM联系起来.

关键词:
在PUF60中,PUF60为60度.维雷伊氏综合征 (Verheij综合征) 是一种头骨面部显微症是什么下巴的不对称性眼睛 - 耳朵 - 脊椎频谱

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Pleiotropy

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