Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

Abstract Background Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such...

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Bibliographic Details
Main Authors: Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ACSF
CMAMMA
expanded carrier screening
genetic counseling
Online Access:https://doi.org/10.1002/mgg3.1621

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