Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry
L. Minarik1,2, K. Vargova3, N. Dusilkova1,3, V. Kulvait1, A. Jonasova2, O. Kodet4, Tomas Stopka1,2
1Biocev, First Faculty of Medicine, Charles University, Vestec, Czech Republic 2First Department of Medicine, Department of Haematology, Charles University and General University Hospital in Prague, Czech Republic 3Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic 4Department of Dermatology and Venereology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic