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De novo variants in ATXN7L3 lead to developmental delay, hy..:
Harel, Tamar
;
Spicher, Camille
;
Scheer, Elisabeth
...
Brain. 147 (2024) 8 - p. 2732-2744 , 2024
Link:
https://doi.org/10.1093/brain/awae160
RT Journal T1
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_brain_awae160&Exemplar=1&LAN=DE A1 Harel, Tamar A1 Spicher, Camille A1 Scheer, Elisabeth A1 Buchan, Jillian G A1 Cech, Jennifer A1 Folland, Chiara A1 Frey, Tanja A1 Holtz, Alexander M A1 Innes, A Micheil A1 Keren, Boris A1 Macken, William L A1 Marcelis, Carlo A1 Otten, Catherine E A1 Paolucci, Sarah A A1 Petit, Florence A1 Pfundt, Rolph A1 Pitceathly, Robert D S A1 Rauch, Anita A1 Ravenscroft, Gianina A1 Sanchev, Rani A1 Steindl, Katharina A1 Tammer, Femke A1 Tyndall, Amanda A1 Devys, Didier A1 Vincent, Stéphane D A1 Elpeleg, Orly A1 Tora, László PB Oxford University Press (OUP) YR 2024 SN 0006-8950 SN 1460-2156 JF Brain VO 147 IS 8 SP 2732 OP 2744 LK http://dx.doi.org/https://doi.org/10.1093/brain/awae160 DO https://doi.org/10.1093/brain/awae160 SF ELIB - SuUB Bremen
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