학술논문
Genotypes and phenotypes heterogeneity in PIK3CArelated overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Document Type
Article
Author
Mussa, A.; Carli, D.; Leoni, C.; Zampino, G.; Onesimo, R.; Iacoviello, M.; Ranieri, C.; Pantaleo, A.; Bagnulo, R.; Loconte, D.C.; Turchiano, A.; Piglionica, M.; De Luisi, A.; Susca, F.C.; Bukvic, N.; Capurso, M.; Resta, N.; Buonuomo, P.S.; Bartuli, A.; Ferrero, G.B.; Melis, D.; Maitz, S.; Forleo, C.; Selicorni, A.; Cappuccio, G.; Garavelli, L.; Novelli, C.; Memo, L.; Morando, C.; Monica, M.D.; Piscopo, C.; Accadia, M.; Cereda, A.; Giacomo, M.C.Di.; Saletti, V.; Spinelli, A.M.; Lastella, P.; Tenconi, R.; Dvorakova, V.; Irvine, A.D.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2023, 60(2):163-173)
Subject
Language
English
ISSN
14686244
00222593
00222593