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

Anne Marie JelsigAnette KjeldsenLise Lotte ChristensenBirgitte BertelsenJohn Gásdal KarstensenKlaus BrusgaardPernille M Torring

Published in: Journal of medical genetics (2022)

that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curaçao criteria.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
copy number
patient reported outcomes
dna methylation
genome wide