Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
双等位基因DAW1变异会导致一种运动性纤毛病，其特征是侧向性缺陷和轻微的纤毛摆动异常。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2022.07.019
Leslie, Joseph S; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H; Craig, Samuel B; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Lorentzen, Esben; Norris, Dominic P; Anikster, Yair; Omran, Heymut; Grimes, Daniel T; Crosby, Andrew H; Baple, Emma L
