Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic < b > < i > KRAS < /i > < /b > Variation

Conclusion: AlthoughPTPN11 is the most frequently mutated gene in our patient cohort, as in most previous reports, different mutation distribution among the other genes studied motivates the use of a next-generation sequencing gene panel including the possible responsible genes.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research