疾病,中部早期青春期和骨脆弱-一个病例报告
Rebecca-Cristiana Șerban1, Andreea-Mădălina Mituț-Velișcu2, Andrei Costache3
1Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Diagnostics (Basel, Switzerland)
|May 14, 2025
概括
STAG1基因变异会导致带有智力障碍的凝聚性病变. 这一案例突出了无法解释的中部早发性青春期和骨脆弱性,扩大了已知的STAG1相关合性病变谱.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 临床医学 临床医学
背景情况:
- 凝聚类病是影响细胞分裂和DNA修复的遗传疾病.
- STAG1基因突变与智力障碍,面部形和四肢异常的凝聚性病变有关.
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