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

Abstract 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 i...

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Bibliografische Detailangaben

Hauptverfasser:	Ye Tian, Guojie Wang, Wujuan Shi, Xiaohong Bai
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2020-11-01
Schriftenreihe:	BMC Pregnancy and Childbirth
Schlagworte:	Propionic acidemia PCCA In vitro fertilization Genetic carrier screening
Online-Zugang:	http://link.springer.com/article/10.1186/s12884-020-03391-z
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