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Titel:

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

Dokumenttyp:
Article; Review; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Roessler, Franziska; Beck, Anita E; Susie, Ball; Tobias, Bartolomaeus; Begtrup, Amber; Biskup, Saskia; Caluseriu, Oana; Delanty, Norman; Fröhlich, Christine; Greally, Marie T; Karnstedt, Maike; Klöckner, Chiara; Kurtzberg, Joanne; Schubert, Susanna; Schulze, Martin; Weidenbach, Michael; Westphal, Dominik S; White, Maire; Wolf, Cordula M; Zyskind, Jacob; Popp, Bernt; Strehlow, Vincent
Abstract:
The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X-linked syndromic disorder. Through our in-house diagnostics and subsequent matchmaking, we identified six unrelated male individuals with pathogenic or likely pathogenic NONO variants. For a detailed comparison, we reviewed all published characterizations of the NONO-as...     »
Zeitschriftentitel:
Am J Med Genet A
Jahr:
2023
Band / Volume:
191
Heft / Issue:
2
Seitenangaben Beitrag:
469-478
Volltext / DOI:
doi:10.1002/ajmg.a.63044
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36426740
Print-ISSN:
1552-4825
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann); Klinik und Poliklinik für Innere Medizin I, Kardiologie (Prof. Laugwitz)
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