Article
Metabolic profiling of Costello syndrome: Insights from a single-center cohort.
European journal of medical genetics - 1 Mar 2022
Leoni Chiara, Massese Miriam, Gervasoni Jacopo, Primiano Aniello, Giorgio Valentina, Onesimo Roberta, Kuczynska Eliza, Rigante Donato, Persichilli Silvia, Carpentieri Giovanna, Flex Elisabetta, Pastorino Roberta, Tartaglia Marco, Zampino Giuseppe
Abstract excerpt
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...
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