Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability

Mutations in ASH1L have been associated with a range of phenotypes, including intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), seizures, as well as differences in skeletal, muscular, and sleep functions. In this study, we describe a patie...

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Bibliographic Details
Main Authors: Baoqiong Liao, Wuming Xie, Shuwen He
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Neurology
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Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2025.1524532/full
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