Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
CBY1 缺失导致以 Joubert 综合征为特征的纤毛病
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.24127
Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M Larsen, Julia Wallmeier, Diana Bracht, Kari-Anne M Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann-Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian