Associated Papers
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >KRAS Variation.
Demir S et al.
Molecular Syndromology, 2022
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
RASopathy in Patients With Isolated Sagittal Synostosis.
Davis AA et al.
Global Pediatric Health, 2019
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
Papadopoulou A et al.
European Journal of Pediatrics, 2012
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC et al.
European Journal of Human Genetics : Ejhg, 2011
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M et al.
American Journal of Human Genetics, 2002
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