Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Author(s) -
Joseph S. Leslie,
Rim Hjeij,
Asaf Vivante,
Elizabeth A. Bearce,
Laura A. Dyer,
Jiaolong Wang,
Lettie E. Rawlins,
Joanna Kennedy,
Nishanka Ubeyratna,
James Fasham,
Zoe H. Irons,
Samuel B. Craig,
Julia Koenig,
Sebastian George,
Ben PodeShakked,
Yoav Bolkier,
Ortal Barel,
Shrikant Mane,
Kathrine K. Frederiksen,
Olivia Wenger,
Ethan K. Scott,
Harold E. Cross,
Esben Lorentzen,
Dominic P. Norris,
Yair Anikster,
Heymut Omran,
Daniel T. Grimes,
Andrew H. Crosby,
Emma L. Baple
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.07.019
Subject(s) - ciliopathy , cilium , laterality , medicine , ciliopathies , biology , genetics , neuroscience , phenotype , gene
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