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Article

Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.

Clinical endocrinology - 1 Sept 2020

Hoermann Henrike, El-Rifai Omar, Schebek Martin, Lodefalk Maria, Brusgaard Klaus, Bachmann Nadine, Bergmann Carsten, Roeper Marcia, Welters Alena, Salimi Dafsari Roschan, Blankenstein Oliver, Mayatepek Ertan, Christesen Henrik, Meissner Thomas, Kummer Sebastian

Abstract excerpt

BACKGROUND AND OBJECTIVE: Kabuki syndrome (KS), caused by pathogenic variants in KMT2D or KDM6A, is associated with hyperinsulinaemic hypoglycaemia (HH) in 0.3%-4% of patients. We characterized the clinical, biochemical and molecular data of children with KS and HH compared to children with KS without HH in a multicentre meta-analysis. METHODS: Data of seven new and 17 already published children with KS and HH...

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PMID: 32533869
DOI: 10.1111/cen.14267

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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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