Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver...

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Detalles Bibliográficos
Autores principales: He, Wen-Bin, Tan, Yue-Qiu, Hu, Xiao, Li, Wen, Xiong, Bo, Luo, Ke-Li, Gong, Fei, Lu, Guang-Xiu, Lin, Ge, Du, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784596/
https://www.ncbi.nlm.nih.gov/pubmed/29368589
http://dx.doi.org/10.1186/s12881-018-0525-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784596/
https://www.ncbi.nlm.nih.gov/pubmed/29368589
http://dx.doi.org/10.1186/s12881-018-0525-9

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