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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Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2025-01-01
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Series: | Frontiers in Neurology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2025.1524532/full |
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