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Article

Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.

Clinical dysmorphology - 1 Oct 2001

McGaughran J, Aftimos S, Jefferies C, Winship I

Abstract excerpt

Nine cases of Kabuki syndrome have been identified in Auckland and surrounding regions in the North Island, New Zealand since 1995. All have the characteristic facial dysmorphism and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenital mitral stenosis, two cases of eventration of the diaphragm, idiopathic thrombocytopaenic purpura and...

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Identifiers

PMID: 11665999
DOI: 10.1097/00019605-200110000-00004

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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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