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Article

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

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

Stadelmaier Rachel T, Kenna Margaret A, Barrett Devon, Mullen Thomas E, Bodamer Olaf, Agrawal Pankaj B, Robson Caroline D, Wojcik Monica H

Abstract excerpt

Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We present an infant clinically diagnosed with CHARGE syndrome but...

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Source

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Identifiers

PMID: 34369642
DOI: 10.1002/ajmg.a.62450
PMCID: PMC8595668

Genes

KMT2D

Provenance

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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