De novo variants in ATP2B1 lead to neurodevelopmental delay

Autor: Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M.S., Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P.A., Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B.A., Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J. Austin, Putnam, Abbey M., Person, Richard, Abou Jamra, Rami, Oppermann, Henry

Publikováno v: In The American Journal of Human Genetics 5 May 2022 109(5):944-952

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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Autor: Yap P; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand. patricky@adhb.govt.nz.; Genetic Health Service New Zealand - Northern hub, Auckland, New Zealand. patricky@adhb.govt.nz., Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, 2145, Australia.; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia., Kakadia PM; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand., Bohlander SK; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand., Curran B; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand., Rahimi MJ; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 04103, Germany., Alburaiky S; Genetic Health Service New Zealand - Northern hub, Auckland, New Zealand., Hayes I; Genetic Health Service New Zealand - Northern hub, Auckland, New Zealand., Oppermann H; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 04103, Germany., Print C; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand., Cooper ST; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, NSW, 2145, Australia., Le Quesne Stabej P; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan; Vol. 32 (1), pp. 125-129. Date of Electronic Publication: 2023 Nov 06.