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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Detalles Bibliográficos
Autores principales: Fujiwara, Takayuki, Takeda, Norifumi, Ishii, Satoshi, Morita, Hiroyuki, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Circulation Society 2019
Materias:
Review
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

Internet

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

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