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.

Authors :: Shovlin CL
Almaghlouth FI
Alsafi A
Coote N
Rennie C
Wallace GM
Govani FS
Research Consortium GE
Source :: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 182-185. Date of Electronic Publication: 2024 Jan 19.
Publication Year :: 2024
Abstract: Competing Interests: Competing interests: None declared.

Subjects :: Humans
Mutation
Phenotype
Whole Genome Sequencing
Telangiectasia, Hereditary Hemorrhagic diagnosis
Telangiectasia, Hereditary Hemorrhagic genetics

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