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

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第一作者: Joseph S,Leslie
第一单位: Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
作者单位: Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. [1] Department of General Pediatrics, University Hospital Muenster, Muenster, Germany. [2] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Pediatrics B and Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. [3] Institute of Molecular Biology, University of Oregon, Eugene, OR. [4] MRC Harwell Institute, Harwell Campus, Oxfordshire, Oxford, United Kingdom. [5] Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. [6] Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. [7] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. [8] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Heart Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. [9] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Israel. [10] Department of Genetics, Yale School of Medicine, New Haven, CT. [11] New Leaf Center Clinic for Special Children, Mt Eaton, OH. [12] Department of Ophthalmology and Vision Science, University of Arizona College of Medicine, University of Arizona, Tucson, AZ. [13] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Israel. [14] Institute of Molecular Biology, University of Oregon, Eugene, OR. Electronic address: DTGrimes@uoregon.edu. [15] Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address: A.H.Crosby@exeter.ac.uk. [16] Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address: E.Baple@exeter.ac.uk. [17]
DOI 10.1016/j.gim.2022.07.019
PMID 36074124
发布时间 2025-05-30
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Genetics in medicine : official journal of the American College of Medical Genetics

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