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Article

Holoprosencephaly in Kabuki syndrome.

American journal of medical genetics. Part A - 1 Mar 2020

Daly Tara, Roberts Abra, Yang Edward, Mochida Ganeshwaran H, Bodamer Olaf

Abstract excerpt

Kabuki syndrome is a rare, multi-systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and an H3K27 demethylase, respectively. The associated clinical phenotype is a direct result of temporal and spatial changes in gene expression in various tissues including the brain. Although mild to moderate intellectual disability is frequently recognized in...

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PMID: 31846209
DOI: 10.1002/ajmg.a.61454

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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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