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Titel:

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Dokumenttyp:
Article; Early Access; Journal Article
Autor(en):
Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thom...     »
Abstract:
OBJECTIVE: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism. METHODS: Genetic data and detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features were analyzed us...     »
Zeitschriftentitel:
Ann Neurol
Jahr:
2024
Volltext / DOI:
doi:10.1002/ana.27077
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/39301775
Print-ISSN:
0364-5134
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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