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Novel COL4A1 missense variant in a case of juvenile stroke

Objective: Pathogenic variants in COL4A1 and COL4A2 genes encoding α-chains of type IV collagen in basement membranes of vessels and soft organs are associated with multi-system phenotypes affecting brain, eye, kidney and muscle. To date, several pathogenic germline variants, either de novo or inher...

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Wedi'i Gadw mewn:
Prif Awduron: Alexandra Kretz, Mareike Arbeiter, Julian Strobel, Katalin Blum, Birgit Frischholz, Annekathrin Rödiger, Holger Hackstein, Christian Maihöfner, André Reis, Georgia Vasileiou, Matthias Schwab
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2025-12-01
Cyfres:Journal of Stroke and Cerebrovascular Diseases
Pynciau:
COL4A1
Juvenile stroke
Cerebral small vessel disease
Microhemorrhages
Leukoencephalopathy
Mynediad Ar-lein:http://www.sciencedirect.com/science/article/pii/S105230572500240X
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