Zobrazeno 1 - 2
of 2
pro vyhledávání: '"G. M. Lenato"'
Autor:
C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure, P. M. Torring, S. Dupuis-Girod, E. Buscarini, VASCERN-HHT
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular dysplasia resulting in visceral arteriovenous malformations and smaller mucocutaneous telangiectasia. Most patients experience recurrent nosebleeds and become anemic w
Externí odkaz:
https://doaj.org/article/d71578396d96461388812ee10de55b6b
Autor:
P, Lastella, C, Sabbà, G M, Lenato, N, Resta, W, Lattanzi, M, Gallitelli, A, Cirulli, G, Guanti
Publikováno v:
Clinical genetics. 63(6)
Autosomal-dominant hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disease caused by mutations in at least two different loci. We screened for mutations in four Italian families where segregation studies showed clear evide