Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study

Conclusion
We present a nationwide study of one of the largest populations of patients with PVs in SMAD4 that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curacao criteria.

Source: Journal of Medical Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Jelsig, A. M., Kjeldsen, A., Christensen, L. L., Bertelsen, B., Karstensen, J. G., Brusgaard, K., Torring, P. M. Tags: Phenotypes Source Type: research