COL4A1/2 CNVs and cerebral small vessel disease
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Reference7 articles.
1. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
2. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease
3. Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications
4. Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy;Ribacoba;Int Arch Med,2008
5. COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
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1. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17
2. An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease;JAMA Network Open;2024-04-17
3. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01
4. Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies;European Journal of Human Genetics;2023-02-13
5. Intracerebral hemorrhage as the sole manifestation of COL4A1/A2 duplications;Neurological Sciences;2022-10-20
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