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Article

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

European journal of human genetics : EJHG - 1 Aug 2016

Mullegama Sureni V, Elsea Sarah H

Abstract excerpt

MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. This review provides a comprehensive clinical and molecular synopsis of 2q23.1 deletion...

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Source

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Identifiers

PMID: 27222293
DOI: 10.1038/ejhg.2016.35
PMCID: PMC4989212

Genes

MBD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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