New cases of de novo truncating mutations of TRIM8 in patients with epileptic encephalopathy, dysmorphic features and nephrotic syndrome

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TitreNew cases of de novo truncating mutations of TRIM8 in patients with epileptic encephalopathy, dysmorphic features and nephrotic syndrome
Type de publicationJournal Article
Year of Publication2018
AuteursAssoum M., Thevenon J., Darmency V., Devinsky O., Heinzen E., Duffourd Y., Thauvin-Robinet C., Lowenstein D., Faivre L.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume26
Pagination418-419
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813