Article
Mutation and Phenotypic Spectrum of Patients With RASopathies.
Indian pediatrics - 15 Jan 2021
Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna Dua
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...
Topics
- Facies
- Genetic Association Studies
- Humans
- Intracellular Signaling Peptides and Proteins
- Mutation
- Noonan Syndrome
- Phenotype