Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity with widespread vascular aneurysm and dissection, and have a high risk of aortic...

Descripción completa

Detalles Bibliográficos
Autores principales: Drera, Bruno, Ritelli, Marco, Zoppi, Nicoletta, Wischmeijer, Anita, Gnoli, Maria, Fattori, Rossella, Calzavara-Pinton, Pier Giacomo, Barlati, Sergio, Colombi, Marina
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774663/
https://www.ncbi.nlm.nih.gov/pubmed/19883511
http://dx.doi.org/10.1186/1750-1172-4-24

Ejemplares similares

Ejemplares similares