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Article

Prenatal and perinatal history in Kabuki Syndrome.

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

Rosenberg Chen E, Daly Tara, Hung Christina, Hsueh Irene, Lindsley Andrew W, Bodamer Olaf

Abstract excerpt

Kabuki syndrome (KS) is a disorder of epigenetic dysregulation due to heterozygous mutations in KMT2D or KDM6A, genes encoding a lysine-specific methyltransferase or demethylase, respectively. The phenotype is highly variable, including congenital cardiac and renal anomalies, developmental delay, hypotonia, failure to thrive, short stature, and immune dysfunction. All affected individuals have characteristic...

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Identifiers

PMID: 31654559
DOI: 10.1002/ajmg.a.61387

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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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