New cases of de novo truncating mutations of TRIM8 in patients with epileptic encephalopathy, dysmorphic features and nephrotic syndrome
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Titre | New cases of de novo truncating mutations of TRIM8 in patients with epileptic encephalopathy, dysmorphic features and nephrotic syndrome |
Type de publication | Journal Article |
Year of Publication | 2018 |
Auteurs | Assoum M., Thevenon J., Darmency V., Devinsky O., Heinzen E., Duffourd Y., Thauvin-Robinet C., Lowenstein D., Faivre L. |
Journal | EUROPEAN JOURNAL OF HUMAN GENETICS |
Volume | 26 |
Pagination | 418-419 |
Date Published | OCT |
Type of Article | Meeting Abstract |
ISSN | 1018-4813 |