Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2

Hereditary hemorrhagic telangiectasia (HTT) is an autosomal dominant disease, most frequently caused by a mutation in either ENG or ACVRL1, which can be associated with pulmonary arterial hypertension (PAH). In this report, we describe a new unpublished ACVRL1 mutation segregating in three members o...

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Detalles Bibliográficos
Autores principales: Greco, Alessandra, Plumitallo, Sara, Scelsi, Laura, Maggi, Giannantonio, Sobrero, Matteo, Turco, Annalisa, Raineri, Claudia, Arseni, Natalia, Cappelletti, Donata, Visconti, Luigi Oltrona, Pagella, Fabio, Spinozzi, Giuseppe, Ghio, Stefano, Olivieri, Carla, Danesino, Cesare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024275/
https://www.ncbi.nlm.nih.gov/pubmed/29799317
http://dx.doi.org/10.1177/2045894018782664

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