New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
耳廓髁综合征 (ARCND) 的新致病基因位点:涉及 TWIST1 调控元件的 430 kb 重复序列
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2021-107825
Vanessa Luiza Romanelli Tavares # ,Sofia Ligia Guimarães-Ramos # ,Yan Zhou ,Cibele Masotti ,Suzana Ezquina ,Danielle de Paula Moreira ,Henk Buermans ,Renato S Freitas ,Johan T Den Dunnen ,Stephen R F Twigg ,Maria Rita Passos-Bueno