Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations
Author:
Affiliation:
1. Department of Neurosurgery, Faculty of Medicine, The University of Tokyo
2. Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo
Publisher
Japan Neurosurgical Society
Subject
Polymers and Plastics,General Environmental Science
Link
https://www.jstage.jst.go.jp/article/nmccrj/9/0/9_2022-0022/_pdf
Reference17 articles.
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2. 2) Gross BA, Puri AS, Popp AJ, Du R: Cerebral capillary telangiectasias: a meta-analysis and review of the literature. Neurosurg Rev 36: 187-193; discussion 194, 2013
3. 3) Eerola I, Boon LM, Mulliken JB, et al.: Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73: 1240-1249, 2003
4. 4) Wouters V, Limaye N, Uebelhoer M, et al.: Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet 18: 414-420, 2010
5. 5) Mendola A, Schlogel MJ, Ghalamkarpour A, et al.: Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. Mol Syndromol 4: 257-266, 2013
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