Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95

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TitrePhenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95
Type de publicationJournal Article
Year of Publication2020
AuteursA. Seuma R-P, Boerrigter M., Mandrile G., Pelle A., Giorgio E., Lindstrand A., Johansson M., Kvarnung M., Everman D., Bahrambeigi V., MacKenzie A., Morton J., Ruivenkamp C., Challman T., Hurst A., Hoyer J., Elmslie F., Dye T., Isidor B., Haldeman-Englert C., Gomez-Andres D., Schluter A., de Man S., Shieh J., Prada C., Moutton S., Denomme-Pichon A., Motti S., Bruel A., F. Mau-Them T, Reiter S., van Ravenswaaij-Arts C., Shaw-Smith C., Parikh S., Aldinger K., Lovgren A., Rauch A., Ross M., Gomez-Puertas P., De Vries B., Pujol A., Tumer Z.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume28
Pagination331-332
Date PublishedDEC
Type of ArticleMeeting Abstract
ISSN1018-4813