玻璃综合症是由SATB2下游区域的染色体破裂引起的
Keiko Shimojima Yamamoto1, Rina Shimomura2, Hiromichi Shoji3
1Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Brain & development
|July 7, 2024
概括
造成智力残疾的病症格拉斯综合征与SATB2基因失调有关. 这项研究发现了一种影响SATB2的新型转移.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 人类疾病研究研究.
- 分子生物学分子生物学
背景情况:
- 玻璃综合征的特点是智力障碍,小头症,和特定的面部特征,通常由2q33.1微切除引起.
- 位于关键删除区域内的SATB2基因被确定为格拉斯综合征的主要原因,报告了许多致病变体.
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