Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
WDR35 中的特定变体会破坏 EvC 复合物和 SMO 向纤毛的募集，从而导致一种特殊形式的 Ellis-van Creveld 综合征
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddv152
José A Caparrós-Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia Temtamy, Ghada A Otaify, Mennat Mehrez, María Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda-Arenas, Karen E Heath, Maria Cristina Digilio, Bruno Dallapiccola, Judith A Goodship, Pleasanti
