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Updated: Sep 21, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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病例报告:Rauch-Steindl综合征的儿童中的一个新的NSD2截断变体

Qi Yang1,2, Di Gong3, Shang Yi1,2

  • 1Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Frontiers in pediatrics
|June 23, 2023
PubMed
概括

沃尔夫 - 希尔斯霍恩综合征 (WHS) 和劳希 - 斯坦德尔综合征 (RSS) 与NSD2基因有关. 在RSS患者中发现了一种新的NSD2变异,扩大了这些罕见发育障碍的已知遗传原因.

关键词:
在NSD2基因.劳赫 - 斯坦德尔综合征是什么?在新的 de novo.截断变体的切断变体狼 - 希尔斯霍恩综合征是什么?

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