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A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3–4% of patients, thus exceeding the prevalence in the general population. HH association is stronger for KS type 2 (KDM6A-KS, OMIM #300867) than KS type 1 (KMT2D-KS, OMIM #147920). Both the disease-associated...

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Principais autores: Maines Evelina, Maiorana Arianna, Leonardi Letizia, Piccoli Giovanni, Soffiati Massimo, Franceschi Roberto
Formato: Artigo
Idioma:Inglês
Publicado: Sciendo 2023-01-01
Series:Endocrine Regulations
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Acceso en liña:https://doi.org/10.2478/enr-2023-0016
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