Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in ENG, ACVRL1 and SMAD4, which function in regulating the transforming growth factor beta and bone morphogenetic protein signaling pathways. Symptoms of HHT can be present in individuals who t...

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Detalles Bibliográficos
Autores principales: Hernandez, Felicia, Huether, Robert, Carter, Lester, Johnston, Tami, Thompson, Jennifer, Gossage, James R, Chao, Elizabeth, Elliott, Aaron M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785548/
https://www.ncbi.nlm.nih.gov/pubmed/27081547
http://dx.doi.org/10.1038/hgv.2015.40

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785548/
https://www.ncbi.nlm.nih.gov/pubmed/27081547
http://dx.doi.org/10.1038/hgv.2015.40

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