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Article

Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.

European journal of medical genetics - 1 Apr 2024

Tusseau M, Eyries M, Chatron N, Coulet F, Guichet A, Colin E, Demeer B, Maillard H, Thevenon J, Lavigne C, Saillour V, Paris C, De Sainte Agathe J M, Pujalte M, Guilhem A, Dupuis-Girod S, Lesca G

Abstract excerpt

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...

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PMID: 38355093
DOI: 10.1016/j.ejmg.2024.104919

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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