Apr 2, 2018 · Results: We discovered multiple mosaic-activating variants in 4 genes of the RAS/MAPK pathway, KRAS, NRAS, BRAF, and MAP2K1, a pathway commonly activated in …

Mosaic RASopathies may be less apparent than the classic or typical syndromes, such as Costello and Noonan syndromes. What Is Mosaicism? Genes are made of DNA sequences …

For syndromes caused by mosaic mutations of the Ras/MAPK signaling pathway, the term “mosaic RASopathies” has been proposed. In the following article, genetic and phenotypic …

Apr 2, 2018 · We discovered mosaic-activating variants in oncogenes at several levels of the RAS/MAPK signaling pathway as a major cause of sporadic VMs and particularly of the …

We recently demonstrated multilineage somatic mosaicism in cutaneous-skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi, elevated …

Nov 30, 2024 · Mosaic RASopathies are a group of developmental syndromes with highly variable phenotypes typically involving the skin, eyes, brain, and cardiovascular and/or skeletal …

See the related article at Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. Articles from The Journal of Clinical Investigation are …

Dec 2, 2022 · Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, …

Jul 1, 2022 · We investigated the mutational spectrum and genotype−phenotype associations of mosaic RAS variants. In this article, we present a series of individuals with DoSM with RAS …

Feb 20, 2018 · We discovered multiple mosaic-activating variants in 4 genes of the RAS/MAPK pathway, KRAS, NRAS, BRAF, and MAP2K1, a pathway commonly activated in cancer and …