Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
Jamie McDonald, Pınar Bayrak‐Toydemir, Desiree DeMille, Whitney Wooderchak‐Donahue, Kevin J. Whitehead
Topics & Concepts
ACVRL1ProbandMedicineTelangiectasiaConfidence intervalGenetic testingPediatricsInternal medicineEndoglinDermatologyGeneticsMutationGeneBiologyCD34Stem cellVascular Anomalies and TreatmentsVasculitis and related conditionsGastrointestinal Bleeding Diagnosis and Treatment