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Article

Kabuki syndrome revisited.

Journal of human genetics - 1 Apr 2012

Bokinni Yemisi

Abstract excerpt

Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32 000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the...

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Identifiers

PMID: 22437206
DOI: 10.1038/jhg.2012.28

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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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