[一个家庭中有两例骨纤维病]
Georgi Stefanov Kirov1, Frauke Schmidt2, Senem Elena Alsat-Krenz1
1Geburtshilfe und Pränatalmedizin, Evangelisches Jung Stilling Krankenhaus GmbH, Siegen, Germany.
Zeitschrift fur Geburtshilfe und Neonatologie
|August 1, 2025
概括
细胞内细胞传递器 (IFT) 基因IFT122的突变导致骨纤维病变. 这项研究详细介绍了IFT122病原性突变的异质合体载体家族中的两个不同的纤毛病.
科学领域:
- 细胞生物学 细胞生物学
- 遗传学 遗传学 是一个
- 发育生物学 发展生物学
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