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Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, signi...
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| 出版年: | Genet Mol Biol |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sociedade Brasileira de Genética
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7229872/ https://ncbi.nlm.nih.gov/pubmed/32105286 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2019-0126 |
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