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Updated: Jul 2, 2025

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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类固醇性急性调节蛋白 (STAR) 缺乏:我们的经验和对表型-基因型相关性的系统审查

Aditya Phadte1, Charushila Dhole2, Samiksha Hegishte1

  • 1Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.

Clinical endocrinology
|February 18, 2024
PubMed
概括

脂质先天性上腺增生 (LCAH) 是一种由STAR突变引起的遗传疾病. 这项研究将46XY LCAH患者的表型与基因型相关联,提出了一个新的分类系统.

关键词:
LCAH LCAH 的时间星星是什么意思?星星是什么意思发生性腺功能 发生性腺功能脂质上腺增生过度增生类固醇性急性调节性蛋白质缺乏症

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