Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon’s and Divry van Bogaert Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-022-11111-0.pdf
Reference14 articles.
1. Bersano A, Morbin M, Ciceri E et al (2016) The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: report of three cases and literature review. J Neurol Sci 364:77–83. https://doi.org/10.1016/j.jns.2016.03.011
2. Greisenegger EK, Llufriu S, Chamorro A et al (2021) A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke. J Neurol 268:810–816. https://doi.org/10.1007/s00415-020-10081-5
3. Wu S, Xu Z, Liang H (2014) Sneddon’s syndrome: a comprehensive review of the literature. Orphanet J Rare Dis 9:215. https://doi.org/10.1186/s13023-014-0215-4
4. Brown CW, Brodsky AS, Freiman RN (2015) Notch3 overexpression promotes anoikis resistance in epithelial ovarian cancer via upregulation of COL4A2. Mol Cancer Res 13:78–85. https://doi.org/10.1158/1541-7786.MCR-14-0334
5. Yilmaz E, Arsava EM, Gocmen R et al (2021) Characteristic imaging features of neurovascular involvement in primary Sneddon’s syndrome: an analysis of 12 cases. Neurol Sci 42:2363–2369. https://doi.org/10.1007/s10072-020-04621-0
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1. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01
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