CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

BACKGROUND: CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a known high incidence of hypoglycemia, due to many concurring factors. To date,...

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Detalles Bibliográficos
Autores principales: Consales, Alessandra, Crippa, Beatrice Letizia, Colombo, Lorenzo, Villa, Roberta, Menni, Francesca, Giavoli, Claudia, Mosca, Fabio, Bedeschi, Maria Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392907/
https://www.ncbi.nlm.nih.gov/pubmed/35987847
http://dx.doi.org/10.1186/s13052-022-01341-3

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