De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

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TitreDe novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder
Type de publicationJournal Article
Year of Publication2019
AuteursL. Blok S, Kleefstra T., Venselaar H., Maas S., Kroes H.Y, Lachmeijer A.MA, van Gassen K.LI, Firth H.V, Tomkins S., Bodek S., Ounap K., Wojcik M., Cunniff C., Bergstrom K., Powis Z., Tang S., Shinde D.N, Au C., Iglesias A.D, Izumi K., Leonard J., Tayyoun A.A, Baker S.W, Tartaglia M., Niceta M., Dentici M.L, Okamoto N., Miyake N., Matsumoto N., Vitobello A., Faivre L., Philippe C., Gilissen C., van de Wiel L., Pfundt R., Deriziotis P., Brunner H.G, Fisher S.E, T Study DDD
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1117
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813