Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)
ADAMTS6 功能缺失变异：结缔组织、心脏缺陷、胸主动脉瘤和神经发育综合征 (CHANS)
期刊:
影响因子:
doi:10.1101/2025.05.02.25326573
Huguet Herrero, Júlia; Arnaud, Pauline; Bibimbou, Angelique; Seifert, Deborah E; Mougin, Zakaria; Benarroch, Louise; Michot, Caroline; Capri, Yline; Ruaud, Lyse; Dupuis-Girod, Sophie; Guilhem, Alexandre; Beyer, Constance; Bajolle, Fanny; Milleron, Oliver; Jondeau, Guillaume; Hanna, Nadine; Reinhardt, Dieter P; Guo, Dong-Chuan; Milewicz, Dianna; Boileau, Catherine; Aubart, Mélodie; Mead, Timothy J; Le Goff, Carine
