Fol. Biol. 2020, 66, 1-6
https://doi.org/10.14712/fb2020066010001
    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
References
1. , K. D., Umar, B., Scheirer, J. (2019) Successful treatment of hereditary hemorrhagic telangiectasia with octreotide. ACG Case Rep. J. 10, 6.
            
        
        
    
        2. , A. D., Brusgaard, K., Poulsen, L., Kruse, T., Rasmussen, K., Green, A., Vase, P. (2001) Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am. J. Med. Genet. 98, 298-302.
            <https://doi.org/10.1002/1096-8628(20010201)98:4<298::AID-AJMG1093>3.0.CO;2-K>
        
        
    
        3. , A., Al-Samkari, H., Kuter, D. J. (2018) Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica 103, 1433-1443.
            <https://doi.org/10.3324/haematol.2018.193003>
        
        
    
        4. , D. Y., Sorensen, L. K., Brooke, B. S., Urness, L. D., Davis, E. C., Taylor, D. G., Boak, B. B., Wendel, D. P. (1999) Defective angiogenesis in mice lacking endoglin. Science 284, 1534-1537.
            <https://doi.org/10.1126/science.284.5419.1534>
        
        
    
        5. McDonald, J., Pyeritz, R. E. (2000) Hereditary hemorrhagic teleangiectasia. GeneReviews®, University of Washington, Seattle, WA.
            
        
        
    
        6. , N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., Prudent, R., Feige, J. J., Bailly, S. (2010) Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. Blood 116, 1604-1612.
            <https://doi.org/10.1182/blood-2010-03-276881>
        
        
    
        7. , S., Mummery, C. L., Westermann, C. J. (2003) Hereditary hemorrhagic telangiectasia: an update on transforming growth factor β signaling in vasculogenesis and angiogenesis. Cardiovasc. Res. 58, 20-31.
            <https://doi.org/10.1016/S0008-6363(02)00852-0>
        
        
    
