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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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| Publicado en: | BMC Pregnancy Childbirth |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7659086/ https://ncbi.nlm.nih.gov/pubmed/33183246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12884-020-03391-z |
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