Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family

Bauer, Ann-Kathrin; Marquardt, Iris; Sundermann, Benedikt; Wolf, Christine; Raupach, Katrin; Grundmann-Hauser, Kathrin; Gieldon, Laura; Otterbach, Maximilian; Maurer, Martin; Haack, Tobias; Lee-Kirsch, Min Ae; Korenke, Georg-Christoph; Hitz, Marc-Phillip

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family

Autor(en):

Bauer, Ann-Kathrin; Marquardt, Iris; Sundermann, Benedikt; Wolf, Christine; Raupach, Katrin; Grundmann-Hauser, Kathrin; Gieldon, Laura; Otterbach, Maximilian; Maurer, Martin; Haack, Tobias; Lee-Kirsch, Min Ae; Korenke, Georg-Christoph; Hitz, Marc-Phillip

Tübinger Autor(en):

Raupach, Katrin
Grundmann-Hauser, Kathrin
Haack, Tobias

Erschienen in:

Frontiers in Immunology (2025), Bd. 16, Article 1453496

Verlagsangabe:

Lausanne : Frontiers Media Sa

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.3389/fimmu.2025.1453496

ISSN:

1664-3224