Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Rosario Sánchez-MartínezAdriana IriarteJosé María Mora-LujánJosé Luis PatierDaniel López-WolfAna OjedaMiguel Angel TorralbaMaría Coloma JuyolRicardo GilSol AñónJoel Salazar-MendiguchíaAntoni Riera-Mestrenull null

Published in: Orphanet journal of rare diseases (2020)

ACVRL1 variants are more frequent than ENG in Spain. ACVRL1 patients developed symptomatic liver disease and anemia more often than ENG patients. Compared to ACVRL1, those with ENG variants are younger at diagnosis and show pulmonary and cerebral AVMs more frequently.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
peritoneal dialysis
gene expression
pulmonary hypertension
machine learning
genome wide
dna methylation
electronic health record
brain injury