학술논문
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Document Type
Article
Author
Motta, M.; Pantaleoni, F.; Pizzi, S.; Zara, E.; Ferilli, M.; Tartaglia, M.; Solman, M.; Den Hertog, J.; Bonnard, A.A.; Vial, Y.; Cavé, H.; Kuechler, A.; Zenker, M.; Priolo, M.; Chandramouli, B.; Coppola, S.; Kayserili, H.; Onesimo, R.; Leoni, C.; Zampino, G.; Brinkmann, J.; Kamphausen, S.B.; Thomas-Teinturier, C.; Guimier, A.; Cordeddu, V.; Mazzanti, L.; Chillemi, G.
Source
In: Human Molecular Genetics . (Human Molecular Genetics, 15 August 2022, 31(16):2766-2778)
Subject
Language
English
ISSN
14602083
09646906
09646906