A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hyperte...

Descripción completa

Detalles Bibliográficos
Autores principales: Ha, Jung Sook, Kim, Yeo Hyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174364/
https://www.ncbi.nlm.nih.gov/pubmed/21949523
http://dx.doi.org/10.3345/kjp.2011.54.6.272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174364/
https://www.ncbi.nlm.nih.gov/pubmed/21949523
http://dx.doi.org/10.3345/kjp.2011.54.6.272

Ejemplares similares