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Article

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.

Italian journal of pediatrics - 18 Sept 2020

Piro Ettore, Schierz Ingrid Anne Mandy, Antona Vincenzo, Pappalardo Maria Pia, Giuffrè Mario, Serra Gregorio, Corsello Giovanni

Abstract excerpt

BACKGROUND: Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome...

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Identifiers

PMID: 32948218
DOI: 10.1186/s13052-020-00902-8
PMCID: PMC7499940

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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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