Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family members

OBJECTIVE: Genetic aortopathy, if left untreated, leads to aortic catastrophe in most affected individuals. We sought to determine the genetic mutation patterns and detection rates in patients with aortopathy and their families with a systematic screening protocol. METHODS: In 2016 to 2020, patients...

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Detalles Bibliográficos
Autores principales: Kim, Jihoon, Yoo, Jae Suk, Kim, Hee-Jung, Kim, Ho Jin, Kim, Dae-Hee, Choo, Suk Jung, Kim, Joon Bum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Adult: Aorta
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556810/
https://www.ncbi.nlm.nih.gov/pubmed/37808051
http://dx.doi.org/10.1016/j.xjon.2023.06.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556810/
https://www.ncbi.nlm.nih.gov/pubmed/37808051
http://dx.doi.org/10.1016/j.xjon.2023.06.006

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