A novel endoglin mutation in a family with hereditary hemorrhagic telangiectasia: a case report

Hereditary hemorrhagic telangiectasis (HHT) is an autosomal dominant vascular disease, and approximately 80% of all HHT cases are caused by gene mutation. In this report, we analyzed the case of an 11-year-old girl who had intracranial bleeding when she was 7 years old. Her brain computed tomography...

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Detalles Bibliográficos
Autores principales: Zong, Yanfang, Liu, Wei, Hou, Cuilan, Zhang, Han, Jiang, Xunwei, Sun, Xiaomin, Xie, Lijian, Xiao, Tingting, Zhang, Yongwei, Li, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429878/
https://www.ncbi.nlm.nih.gov/pubmed/34584883
http://dx.doi.org/10.21037/tp-20-156

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