Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
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Published:2024-08-27
Issue:9
Volume:56
Page:1804-1810
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Oddsson AsmundurORCID, Steinthorsdottir ValgerdurORCID, Oskarsson Gudjon R.ORCID, Styrkarsdottir UnnurORCID, Moore Kristjan H. S.ORCID, Isberg Salvor, Halldorsson Gisli H.ORCID, Sveinbjornsson GardarORCID, Westergaard DavidORCID, Nielsen Henriette SvarreORCID, Fridriksdottir Run, Jensson Brynjar O.ORCID, Arnadottir Gudny A.ORCID, Jonsson HakonORCID, Sturluson Arni, Snaebjarnarson Audunn S.ORCID, Andreassen Ole A.ORCID, Walters G. BragiORCID, Nyegaard MetteORCID, Erikstrup ChristianORCID, Steingrimsdottir Thora, Lie Rolv T.ORCID, Melsted Pall, Jonsdottir IngileifORCID, Halldorsson Bjarni V.ORCID, Thorleifsson GudmarORCID, Saemundsdottir Jona, Magnusson Olafur Th., , Stefansson Hreinn, Banasik KarinaORCID, Sorensen Erik, Masson Gisli, Pedersen Ole BirgerORCID, Tryggvadottir LaufeyORCID, Haavik JanORCID, Ostrowski Sisse RyeORCID, Stefansson Hreinn, Holm HilmaORCID, Rafnar ThorunnORCID, Gudbjartsson Daniel F.ORCID, Sulem PatrickORCID, Stefansson KariORCID
Publisher
Springer Science and Business Media LLC
Reference50 articles.
1. Snaebjarnarson, A. S. et al. Complex effects of sequence variants on lipid levels and coronary artery disease. Cell 186, 4085–4099 (2023). 2. Faubion, S. S., Kuhle, C. L., Shuster, L. T. & Rocca, W. A. Long-term health consequences of premature or early menopause and considerations for management. Climacteric 18, 483–491 (2015). 3. Te Velde, E. R. & Pearson, P. L. The variability of female reproductive ageing. Hum. Reprod. Update 8, 141–154 (2002). 4. Stuenkel, C. A. & Gompel, A. Primary ovarian insufficiency. N. Engl. J. Med. 388, 154–163 (2023). 5. Lambalk, C. B., van Disseldorp, J., de Koning, C. H. & Broekmans, F. J. Testing ovarian reserve to predict age at menopause. Maturitas 63, 280–291 (2009).
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