@article{tusseau:hal-04473768,
TITLE = {Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families},
AUTHOR = {Tusseau, M. and Eyries, M. and Chatron, N. and Coulet, F. and Guichet, A. and Colin, E. and Demeer, B. and Maillard, H. and Thevenon, J. and Lavigne, C. and Saillour, V. and Paris, C. and de Sainte Agathe, J.M. and Pujalte, M. and Guilhem, A. and Dupuis-Girod, S. and Lesca, G.},
URL = {https://u-picardie.hal.science/hal-04473768},
JOURNAL = {European Journal of Medical Genetics},
PUBLISHER = {Elsevier},
VOLUME = {68},
PAGES = {104919},
YEAR = {2024},
MONTH = Apr, DOI = {10.1016/j.ejmg.2024.104919},
KEYWORDS = {HHT ; Genome sequencing ; Inversion},
HAL_ID = {hal-04473768},
HAL_VERSION = {v1},
}