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

dc.contributor.author	Raupach, Katrin
dc.contributor.author	Grundmann-Hauser, Kathrin
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2026-06-15T06:33:50Z
dc.date.available	2026-06-15T06:33:50Z
dc.date.issued	2025
dc.identifier.issn	1664-3224
dc.identifier.uri	http://hdl.handle.net/10900/180766
dc.language.iso	en	de_DE
dc.publisher	Lausanne : Frontiers Media Sa	de_DE
dc.relation.uri	http://dx.doi.org/10.3389/fimmu.2025.1453496	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family	de_DE
dc.type	Article	de_DE
utue.quellen.id	20251118000000_01451
utue.personen.roh	Bauer, Ann-Kathrin
utue.personen.roh	Marquardt, Iris
utue.personen.roh	Sundermann, Benedikt
utue.personen.roh	Wolf, Christine
utue.personen.roh	Raupach, Katrin
utue.personen.roh	Grundmann-Hauser, Kathrin
utue.personen.roh	Gieldon, Laura
utue.personen.roh	Otterbach, Maximilian
utue.personen.roh	Maurer, Martin
utue.personen.roh	Haack, Tobias
utue.personen.roh	Lee-Kirsch, Min Ae
utue.personen.roh	Korenke, Georg-Christoph
utue.personen.roh	Hitz, Marc-Phillip
dcterms.isPartOf.ZSTitelID	Frontiers in Immunology	de_DE
dcterms.isPartOf.ZS-Issue	Article 1453496	de_DE
dcterms.isPartOf.ZS-Volume	16	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE