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...

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Detalles Bibliográficos
Autores principales: Kadiyska, Tanya, Nossikoff, Alexander, Kratunkov, Pencho, Hachmerian, Mary, Angelova, Ludmila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867807/
https://www.ncbi.nlm.nih.gov/pubmed/27212857
http://dx.doi.org/10.4103/0974-2069.180674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867807/
https://www.ncbi.nlm.nih.gov/pubmed/27212857
http://dx.doi.org/10.4103/0974-2069.180674

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