Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
扩大马赞蒂综合征致病 SHOC2 变异的分子谱
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddac071
Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Th