Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022, Vol.188 (12), p.3540-3545
Main Authors: Mazel, Benoit, Mallet, Delphine, Roucher-Boulez, Florence, Signor, Candace Ben, Bournez, Marie, Darmency, Véronique, Bourgeois, Valentin, Poe, Charlotte, El Khabbaz, Fares, Vitobello, Antonio, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.62966