A de novo missense mutation affecting the KCNMA1 gene causes intellectual disability, seizures, facial dysmorphism and connective tissue disorders

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TitreA de novo missense mutation affecting the KCNMA1 gene causes intellectual disability, seizures, facial dysmorphism and connective tissue disorders
Type de publicationJournal Article
Year of Publication2018
AuteursVitobello A., Mancini G.MS, Vergano S.ASchrier, van Slegtenhorst M., Li X., Nambot S., Lehalle D., Poe C., Duffourd Y., Tisserant E., Riviere J., Thauvin-Robinet C., Faivre L., Wang Q.K, Thevenon J.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume26
Pagination339-340
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813