Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
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 JM, Pujalte M, Guilhem A, Dupuis-Girod S, Lesca G.
Tusseau M, et al. Among authors: paris c.
Eur J Med Genet. 2024 Apr;68:104919. doi: 10.1016/j.ejmg.2024.104919. Epub 2024 Feb 12.
Eur J Med Genet. 2024.
PMID: 38355093
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