Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation

BACKGROUND: Propionic acidemia (PA) is a severe monogenic disorder characterized by a deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) enzyme, which is caused by mutations in the PCCA or PCCB gene. Preconception carrier screening could provide couples with meaningful informati...

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Detalles Bibliográficos
Autores principales: Tian, Ye, Wang, Guojie, Shi, Wujuan, Bai, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659086/
https://www.ncbi.nlm.nih.gov/pubmed/33183246
http://dx.doi.org/10.1186/s12884-020-03391-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659086/
https://www.ncbi.nlm.nih.gov/pubmed/33183246
http://dx.doi.org/10.1186/s12884-020-03391-z

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