Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Autor: Leslie, Joseph S. 1, Hjeij, Rim 2, Vivante, Asaf 3, 4, Bearce, Elizabeth A. 5, Dyer, Laura 6, Wang, Jiaolong 7, Rawlins, Lettie 1, 8, Kennedy, Joanna 1, Ubeyratna, Nishanka 1, Fasham, James 1, 8, Irons, Zoe H. 5, Craig, Samuel B. 5, Koenig, Julia 2, George, Sebastian 2, Pode-Shakked, Ben 3, 9, Bolkier, Yoav 3, 10, Barel, Ortal 3, 11, 12, Mane, Shrikant 13, Frederiksen, Kathrine K. 7, Wenger, Olivia 14, Scott, Ethan 14, Cross, Harold E. 15, Lorentzen, Esben 7, Norris, Dominic P. 6, Anikster, Yair 3, 9, 12, Omran, Heymut 2, Grimes, Daniel T. 5, ∗∗∗, Crosby, Andrew H. 1, ∗∗, Baple, Emma L. 1, 8, ∗
Zdroj: In Genetics in Medicine November 2022 24(11):2249-2261
Databáze: ScienceDirect