De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features

Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorde...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2024-08, Vol.147 (8), p.2732-2744
Hauptverfasser:	Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian G, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander M, Innes, A Micheil, Keren, Boris, Macken, William L, Marcelis, Carlo, Otten, Catherine E, Paolucci, Sarah A, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert D S, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D, Elpeleg, Orly, Tora, László
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Animals Child Child, Preschool Developmental Disabilities - genetics Exome Sequencing Face - abnormalities Female Humans Infant Male Muscle Hypotonia - genetics Phenotype Transcription Factors
Online-Zugang:	Volltext
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