ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习

doi:10.11852/zgetbjzz2024-0443

中国儿童保健杂志 ›› 2025, Vol. 33 ›› Issue (1): 112-116.DOI: 10.11852/zgetbjzz2024-0443

• 个案报道 • 上一篇

ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习

李梦月¹, 李慧慧¹, 黄永¹, 王甘雨¹, 韩惠惠¹, 孙爽¹, 史晓依¹, 王阳阳², 王亚哲¹

1.郑州大学第三附属医院儿童发育行为科,河南郑州 450001;
2.郑州大学第三附属医院影像科

收稿日期:2024-04-21 修回日期:2024-06-19 发布日期:2025-01-16 出版日期:2025-01-10
通讯作者: 王亚哲:E-mail:wangyazhe1609@126.com
作者简介:李梦月(1993—),女,主治医师,硕士学位,主要研究方向为儿童发育行为。

Received:2024-04-21 Revised:2024-06-19 Online:2025-01-10 Published:2025-01-16

摘要/Abstract

关键词: Coffin-Siris综合征, 孤独症谱系障碍, ARID1B基因, 基因突变

中图分类号:

李梦月, 李慧慧, 黄永, 王甘雨, 韩惠惠, 孙爽, 史晓依, 王阳阳, 王亚哲. ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习[J]. 中国儿童保健杂志, 2025, 33(1): 112-116.

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ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习

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