病例报告:新型变异导致马里三个无关家庭的发育和性脑病变
Salia Bamba1,2, Lala Sidibé1,3, Seybou H Diallo1,4
1Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.
Frontiers in genetics
|December 3, 2024
概括
对马里家庭的基因分析揭示了GRIN1,SYNJ1和RARS2基因的新变异,导致早期发育性和性脑病变 (DEE). 这扩大了撒哈拉以南非洲DEE已知的遗传原因.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 发育性和性脑病变 (DEE) 是一种严重的神经疾病,具有早期发作的和发育问题.
- 特别是在撒哈拉以南非洲 (SSA),DEE的遗传基础尚不清楚.
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