Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations

Background: The lifespan of Marfan Syndrome (MFS) patients is shortened, especially in patients without early diagnostics, preventive treatment, and elective surgery. Clinically, MFS diagnosis is mainly dependent on phenotypes, but for children, sporadic cases, or suspicious MFS patients, molecular...

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Detalles Bibliográficos
Autores principales: Chen, Songchang, Fei, Hongjun, Zhang, Junyun, Chen, Yiyao, Huang, Hefeng, Lu, Daru, Xu, Chenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702824/
https://www.ncbi.nlm.nih.gov/pubmed/34957211
http://dx.doi.org/10.3389/fmolb.2021.749842

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