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Titel:

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N; Clark, Karl J; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H; Klee, Eric W; Engleman, Kendra; Safina, Nicole P; Slaugh, Rachel; Bryant, Emily M; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N; Schaefer, G Bradley; Towner, Shelley; Brilstra, Eva H; Koeleman, Bobby P C
Abstract:
PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene. METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher. RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight un...     »
Zeitschriftentitel:
Genet Med
Jahr:
2020
Band / Volume:
22
Heft / Issue:
8
Seitenangaben Beitrag:
1413-1417
Volltext / DOI:
doi:10.1038/s41436-020-0815-4
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32366965
Print-ISSN:
1098-3600
TUM Einrichtung:
Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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