Metabolic profiling of Costello syndrome: insights from a single-center cohort

Chiara Leoni, Miriam Massese, Jacopo Gervasoni, Aniello Primiano, Valentina Giorgio, Roberta Onesimo, E Kuczynska, Donato Rigante, Silvia Persichilli, G Carpentieri, E Flex, Roberta Pastorino, M Tartaglia, Giuseppe Zampino

Risultato della ricerca: Contributo in rivistaArticolo in rivista


Costello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized. Here, we provided data on glucose/lipid metabolism and amino acid profile of a large single-center cohort of individuals affected by CS to systematically assess the extent of metabolic dysregulation characterizing this disorder and optimize patient management.
Lingua originaleEnglish
pagine (da-a)1-5
Numero di pagine5
RivistaEuropean Journal of Medical Genetics
Stato di pubblicazionePubblicato - 2022


  • RASopathies


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