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Article

MBD5-related intellectual disability in a Vietnamese child.

American journal of medical genetics. Part A - 1 Apr 2021

Le Thanh Nha Uyen, Ha Thi Minh Thi

Abstract excerpt

The disruption of methyl-binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders known as MBD5-associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.217-1G>C, occurring at the acceptor splicing site of intron 6 of the MBD5 gene identified in a Vietnamese child with intellectual disability, autistic-like...

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Identifiers

PMID: 33427406
DOI: 10.1002/ajmg.a.62077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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