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Article

ASH1L mutation caused seizures and intellectual disability in twin sisters.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Sept 2021

Liu Hailing, Liu De-Tian, Lan Song, Yang Yan, Huang Jingjing, Huang Jinbo, Fang Ling

Abstract excerpt

ASH1L mutations have been identified with variable phenotypes, including intellectual disability, autism spectrum disorder (ASD), and multiple congenital anomalies (MCA). However, the mechanisms underlying this phenotypic variation remain unknown. Here, we present twin sisters exhibiting mild intellectual disability and seizures. Whole-exome sequencing of the family revealed a novel de novo heterozygous sequence...

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Identifiers

PMID: 34373061
DOI: 10.1016/j.jocn.2021.06.038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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