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-Reference-Cited by-同舟云学术

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

Published:2023-08-16 Issue:2 Volume:61 Page:182-185
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Shovlin Claire L^ORCID,Almaghlouth Fatma I,Alsafi Ali^ORCID,Coote Nicola,Rennie Catherine^ORCID,Wallace Gillian MF,Govani Fatima S,Research Consortium Genomics England

Funder

NIHR Imperial Biomedical Research Centre

National Institute for Health and Care Research

NHS England

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

2. Kjeldsen A , Aagaard KS , Tørring PM , et al . 20-year follow-up study of Danish HHT patients-survival and causes of death. Orphanet J Rare Dis 2016;11:157. doi:10.1186/s13023-016-0533-9

3. de Gussem EM , Kroon S , Hosman AE , et al . Hereditary hemorrhagic telangiectasia (HHT) and survival: the importance of systematic screening and treatment in HHT centers of excellence. J Clin Med 2020;9:3581. doi:10.3390/jcm9113581