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Titel:

A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability.

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
Krenn, Martin; Kepa, Sylvia; Kasprian, Gregor; Riedhammer, Korbinian M; Wagner, Matias; Goedl-Fleischhacker, Ursula; Milenkovic, Ivan
Abstract:
Variants in CSDE1, a gene encoding a constrained RNA-binding protein, have recently been associated with a spectrum of neurodevelopmental conditions encompassing autism, seizures and ocular abnormalities. According to previously reported individuals, pathogenic variants in CSDE1 are typically associated with developmental delay and intellectual disability. Here, we report one individual with normal neurodevelopment and adult-onset neuropsychiatric features (i.e., acute psychosis) due to the nove...     »
Zeitschriftentitel:
Eur J Med Genet
Jahr:
2022
Band / Volume:
65
Heft / Issue:
3
Volltext / DOI:
doi:10.1016/j.ejmg.2022.104423
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35026469
Print-ISSN:
1769-7212
TUM Einrichtung:
Professur für Nephrologie (Prof. Heemann)
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