Cargando…
Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases ― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―
Variant types and sites in a single gene could influence the age of onset, severity, and pattern of affected organs of the genetic disease, such as in Marfan syndrome (MFS)-causing FBN1, and understanding the genotype-phenotype relationship could aid in determining the treatment strategy. In contras...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Circulation Society
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7897567/ https://www.ncbi.nlm.nih.gov/pubmed/33693090 http://dx.doi.org/10.1253/circrep.CR-19-0098 |