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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL. Leslie JS, et al. Among authors: irons zh. Genet Med. 2022 Nov;24(11):2249-2261. doi: 10.1016/j.gim.2022.07.019. Epub 2022 Sep 8. Genet Med. 2022. PMID: 36074124 Free PMC article.
Daw1 regulates the timely onset of cilia motility during development.
Bearce EA, Irons ZH, Craig SB, Kuhns CJ, Sabazali C, Farnsworth DR, Miller AC, Grimes DT. Bearce EA, et al. Among authors: irons zh. Development. 2022 Jun 15;149(12):dev200017. doi: 10.1242/dev.200017. Epub 2022 Jun 16. Development. 2022. PMID: 35708608 Free PMC article.