Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome
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DOI: 10.1097/mcd.0000000000000165
Abstract: Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is… read more here.
Keywords: patients costello; pathogenic variant; polish patients; novel pathogenic ... See more keywords