M Tusseau, M Eyries, N Chatron, F Coulet, A Guichet, E Colin, B Demeer, H Maillard, J Thevenon, C Lavigne, V Saillour, C Paris, J M De Sainte Agathe, M Pujalte, A Guilhem, S Dupuis-Girod, G Lesca
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a dominant inherited vascular disorder. The clinical diagnosis is based on the Curaçao criteria and pathogenic variants in the ENG and ACVRL1 genes are responsible for most cases of HHT. Four families with a negative targeted gene panel and selected by a multidisciplinary team were selected and whole-genome sequencing was performed according to the recommendations of the French National Plan for Genomic Medicine. Structural variations were confirmed by standard molecular cytogenetic analysis (FISH)...
February 12, 2024: European Journal of Medical Genetics