Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

BACKGROUND: Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of inf...

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Detalles Bibliográficos
Autores principales: Kappanayil, Mahesh, Nampoothiri, Sheela, Kannan, Rajesh, Renard, Marjolijn, Coucke, Paul, Malfait, Fransiska, Menon, Swapna, Ravindran, Hiran K, Kurup, Renu, Faiyaz-Ul-Haque, Muhammad, Kumar, Krishna, De Paepe, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598868/
https://www.ncbi.nlm.nih.gov/pubmed/22943132
http://dx.doi.org/10.1186/1750-1172-7-61

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