Cargando…
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome
Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 (FBN1) gene, and mutations in FBN1 are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes TGFBR1 and TGFBR2 identified in association wit...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2012
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299593/ https://www.ncbi.nlm.nih.gov/pubmed/22300218 http://dx.doi.org/10.1186/1477-5751-11-9 |