Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

BACKGROUND: The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic connective tissue involvement. LDS type 1 to 4 are caused by mutations in genes of the TGF-β signaling pathway: TGFBR1 and TGFBR2 encoding...

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Detalles Bibliográficos
Autores principales: Ritelli, Marco, Chiarelli, Nicola, Dordoni, Chiara, Quinzani, Stefano, Venturini, Marina, Maroldi, Roberto, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236574/
https://www.ncbi.nlm.nih.gov/pubmed/25163805
http://dx.doi.org/10.1186/s12881-014-0091-8

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