TSC2pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

TSC2pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Purpose To perform comprehensive genotyping ofTSC1andTSC2in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods Infants were enrolled at age

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Veröffentlicht in:Genetics in medicine 2020-09, Vol.22 (9), p.1489-1497
Hauptverfasser: Ogorek, Barbara, Hamieh, Lana, Hulshof, Hanna M., Lasseter, Kathryn, Klonowska, Katarzyna, Kuijf, Hugo, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Benova, Barbora, Aronica, Eleonora, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domanska-Pakiela, Dorota, Janson, Stef, Kozlowski, Piotr, Urbanska, Malgorzata, Jaworski, Jacek, Jozwiak, Sergiusz, Jansen, Floor E., Kotulska, Katarzyna, Kwiatkowski, David J.
Format: Artikel
Sprache:eng
Schlagworte:
Genetics & Heredity
Life Sciences & Biomedicine
Science & Technology
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Zusammenfassung:Purpose To perform comprehensive genotyping ofTSC1andTSC2in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods Infants were enrolled at age
ISSN:1098-3600
1530-0366
DOI:10.1038/s41436-020-0823-4