Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

PURPOSE: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to...

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Detalles Bibliográficos
Autores principales: Regalado, Ellen S., Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C., Ades, Lesley, Benedict, Susan, Bradley, Timothy J., Brickner, M. Elizabeth, Chatfield, Kathryn C., Child, Anne, Feist, Cori, Holmes, Kathryn W., Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A., Mitchell, Anna L., Ostergaard, John R., Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034999/
https://www.ncbi.nlm.nih.gov/pubmed/29300374
http://dx.doi.org/10.1038/gim.2017.245

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