Mutation and Phenotypic Spectrum of Patients With RASopathies.

Abstract excerpt

OBJECTIVE: To examine the common and specific clinical features, mutation spectrum and genotype-phenotype correlation in Noonan syndrome and related RASopathies. PARTICIPANTS: Records of 30 patients with clinical diagnosis of Noonan syndrome and related RASopathies presenting over a six-year period at a tertiary care medical genetics centre were reviewed. Detailed clinical phenotype evaluation and genetic testing...

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