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Updated: Jan 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在CHD7,FGFR1和ANOS1的Splice-Site变体的功能验证和表型谱,在先天性高性质性低性质症的先天性高性质性低性质症

Yuting Li1, Pingchuan Zhang2,3,4, Jun Guan2,3,4

  • 1Department of Pediatrics, the Third Xiangya Hospital, Central South University, Changsha, China.

Clinical genetics
|November 21, 2025
PubMed
概括

在CHD7,ANOS1和FGFR1基因中的拼接位变异导致错误拼接,并导致大约3.9%的患者患有先天性阴性腺性阴性腺症 (CHH). 这些变异可能导致非生殖健康问题,影响CHH的诊断和遗传咨询.

关键词:
CHH CHH 的意思是卡尔曼综合征是卡尔曼综合征的一种症状.一个微型的基因拼接地点的变体

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