Coffin-Siris syndrome caused by a de novo mutation in ARID1B: a case report and literature review

doi:10.11852/zgetbjzz2022-1405<br/><br/>

Chinese Journal of Child Health Care ›› 2023, Vol. 31 ›› Issue (10): 1156-1160.DOI: 10.11852/zgetbjzz2022-1405

• Case Report • Previous Articles

Coffin-Siris syndrome caused by a de novo mutation in ARID1B: a case report and literature review

TAO Jia-qi, CHEN Ying^*

Department of Nephrology,Children's Hospital of Nanjing Medical University, Nanjing,210008,China

Received:2022-11-23 Revised:2023-02-16 Online:2023-10-10 Published:2023-10-23
Contact: CHEN Ying,Email:xych0929@sina.com

ARID1B基因新发突变致Coffin-Siris综合征1例报告并文献复习

陶佳琪, 陈颖

南京医科大学附属儿童医院肾脏内科,江苏南京 210008

通讯作者: 陈颖,E-mail:xych0929@sina.com
作者简介:陶佳琪(1998-),女,江苏人,在读研究生,主要研究方向为小儿内科学。
基金资助:
国家自然科学基金面上项目(81770662)

Abstract

Key words: Coffin-Siris syndrome, ARID1B gene, De novo mutation, Child

关键词: Coffin-Siris综合征, ARID1B基因, 新发变异, 儿童

CLC Number:

R725.9

TAO Jia-qi, CHEN Ying. Coffin-Siris syndrome caused by a de novo mutation in ARID1B: a case report and literature review[J]. Chinese Journal of Child Health Care, 2023, 31(10): 1156-1160.

陶佳琪, 陈颖. ARID1B基因新发突变致Coffin-Siris综合征1例报告并文献复习[J]. 中国儿童保健杂志, 2023, 31(10): 1156-1160.

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Coffin-Siris syndrome caused by a de novo mutation in ARID1B: a case report and literature review

ARID1B基因新发突变致Coffin-Siris综合征1例报告并文献复习

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