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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...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
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Materias: | |
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 |