Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study
This study illustrates the importance of systematic screening for hypoglycaemia in patients with early diagnosis of KS. Conversely, newborns or infants with CHI should be considered and possibly tested for this etiological diagnosis.
Authors
- Marc Nicolino (ORCID: https://orcid.org/0000-0001-5395-2249)
- Kévin Perge (ORCID: https://orcid.org/0000-0002-6527-805X)
- Mélanie Gaudillière
- Thibaud Armand
- Valérie Senée (ORCID: https://orcid.org/0000-0001-7012-3944)
- Carine Villanueva
Institutions
- Université Paris Cité (FR)
- Hôpital Femme Mère Enfant (FR)
- Hospices Civils de Lyon (FR)
- Institut Cochin (FR)
Publication Details
- Journal
- Cureus
- Published
- 2026-01-14
- DOI
- https://doi.org/10.7759/cureus.101532
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00