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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Detalles Bibliográficos
Autores principales: Zevallos-Morales, Alejandro, Murillo, Alexis, Dueñas-Roque, Milagros M., Prötzel, Ana, Venegas-Tresierra, Luis, Ángeles-Villalba, Verónica, Guevara-Cruz, Miguel, Chávez-Gil, Ada, Fujita, Ricardo, Guevara-Fujita, Maria L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229872/
https://www.ncbi.nlm.nih.gov/pubmed/32105286
http://dx.doi.org/10.1590/1678-4685-GMB-2019-0126

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