Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
一项针对1500名携带FBN1致病变异的马凡综合征患者的队列研究揭示了基因型-表型相关性在血管事件之外的临床意义
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01132-x
Arnaud, Pauline; Milleron, Olivier; Hanna, Nadine; Ropers, Jacques; Ould Ouali, Nadia; Affoune, Amel; Langeois, Maud; Eliahou, Ludivine; Arnoult, Florence; Renard, Philippe; Michelon-Jouneaux, Marlène; Cotillon, Marie; Gouya, Laurent; Boileau, Catherine; Jondeau, Guillaume