Associated Papers
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D et al.
Nature Medicine, 2023
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Li D et al.
Nature Medicine, 2019
The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.
Nguyen V et al.
International Journal of Molecular Sciences, 2019
EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.
Zeng X et al.
Trends in Molecular Medicine, 2019
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL et al.
European Journal of Human Genetics : Ejhg, 2018
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N et al.
Human Mutation, 2013
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.
Hershkovitz D et al.
The British Journal of Dermatology, 2008
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Eerola I et al.
American Journal of Human Genetics, 2003
Spectrum of lymphatic anomalies in patients with RASA1-related CM-AVM.
Mologousis MA et al.
Pediatric Dermatology, 0
Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
Sánchez-Espino LF et al.
Pediatric Dermatology, 0
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