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Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex

Autor: Ruhi Haqqani, Sidra Rana, Nayeem Sadath Haneef, Omar Farooq, Vadlamudi Raghavendra Rao

Publikováno v: Indian Dermatology Online Journal, Vol 15, Iss 4, Pp 657-659 (2024)

Externí odkaz: https://doaj.org/article/ab8d0f4180f04fc9a5cf6204e3729d46

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Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.

Autor: Oddsson A; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Steinthorsdottir V; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Oskarsson GR; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Styrkarsdottir U; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Moore KHS; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Department of Anthropology, University of Iceland, Reykjavik, Iceland., Isberg S; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Halldorsson GH; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Sveinbjornsson G; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Westergaard D; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Methods and Analysis, Statistics Denmark, Copenhagen, Denmark.; Department of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark., Nielsen HS; Department of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark.; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark., Fridriksdottir R; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Jensson BO; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Arnadottir GA; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Jonsson H; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Sturluson A; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Snaebjarnarson AS; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Andreassen OA; NORMENT Centre, University of Oslo, Oslo, Norway.; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway., Walters GB; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Nyegaard M; Department of Health Science and Technology, Aalborg University, Aalborg, Denmark., Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Steingrimsdottir T; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Lie RT; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway., Melsted P; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland., Jonsdottir I; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Halldorsson BV; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; School of Technology, Reykjavik University, Reykjavik, Iceland., Thorleifsson G; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Saemundsdottir J; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Magnusson OT; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Banasik K; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Sorensen E; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Masson G; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Pedersen OB; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Zealand University Hospital, Roskilde, Denmark., Tryggvadottir L; Icelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland.; Faculty of Medicine, BMC, Laeknagardur, University of Iceland, Reykjavik, Iceland., Haavik J; Department of Biomedicine, University of Bergen, Bergen, Norway.; Bergen Center of Brain Plasticity, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Stefansson H; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Holm H; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Rafnar T; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Gudbjartsson DF; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen, Inc., Reykjavik, Iceland. patrick.sulem@decode.is., Stefansson K; deCODE genetics/Amgen, Inc., Reykjavik, Iceland. kstefans@decode.is.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. kstefans@decode.is.

Publikováno v: Nature genetics [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1804-1810. Date of Electronic Publication: 2024 Aug 27.