Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Claire L ShovlinFatma I AlmaghlouthAli AlsafiNicola CooteCatherine RennieGillian Mf WallaceFatima S GovaniGenomics England Research ConsortiumPublished in: Journal of medical genetics (2023)