Clinical and genetic challenges in a family with history of childhood polyp, aortopathy, and clinical diagnosis of hereditary hemorrhagic teleangiectasia (HHT)
Hereditary hemorrhagic teleangiectasia (HHT) is a genetic disorder, characterized by abnormal vessel formation and arteriovenous malformations (AVMs). The so-called “Curaçao criteria” are most commonly employed for the purposes of clinical diagnosis. However, children may not exhibit the full magnit...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Medknow Publications & Media Pvt Ltd
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867807/ |