TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

Ogórek, Barbara; Hulshof, Hanna M.; Lasseter, Kathryn; Hamieh, Lana; Moavero, Romina; Klonowska, Katarzyna; Weschke, Bernhard; Riney, Kate; Hertzberg, Christoph; Scholl, Theresa; Kuijf, Hugo; Members, Collective: EPISTOP Consortium; Nabbout, Rima; Hm, Hulshof; Feucht, Martha; Lagae, Lieven; Krsek, Pavel; Jansen, Anna C.; Benova, Barbora; Sadowski, Krzysztof; Aronica, Eleonora; Ac, Jansen; Curatolo, Paolo; Urbanska, Malgorzata; Borkowska, Julita; Domańska Pakieła, Dorota; Janson, Stef; Kozlowski, Piotr; Kwiatkowski, David J.; Jaworski, Jacek; Jozwiak, Sergiusz; Jansen, Floor E.; Fe, Jansen; Kotulska, Katarzyna

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Elsevier, Genetics in Medicine, 9(22), p. 1489-1497, 2020

DOI: 10.1038/s41436-020-0823-4

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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

Journal article published in 2020 by Barbara Ogórek, Hanna M. Hulshof, Kathryn Lasseter, Lana Hamieh, Romina Moavero, Katarzyna Klonowska, Bernhard Weschke

, Kate Riney

, Christoph Hertzberg, Theresa Scholl

, Hugo Kuijf

, Collective: EPISTOP Consortium Members, Rima Nabbout, Hulshof Hm, Martha Feucht and other authors.

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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.