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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...
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| Publicado no: | Circ Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Japanese Circulation Society
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7897567/ https://ncbi.nlm.nih.gov/pubmed/33693090 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1253/circrep.CR-19-0098 |
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