Fetal central nervous system anomalies: When should we offer exome sequencing?

Fetal central nervous system anomalies: When should we offer exome sequencing?

To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies. We reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts (Prenatal Assessment of Genomes and Exomes (PAGE...

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Bibliografiska uppgifter
Huvudupphovsmän: Caitlin Baptiste, Rhiannon Mellis, Vimla S. Aggarwal, Jenny Lord, Ruth Y. Eberhardt, Mark D. Kilby, Eamonn R. Maher, Ronald J. Wapner, Jessica L. Giordano, Lyn S. Chitty
Materialtyp: Revisão
Språk:engelska
Publicerad: 2022
Länkar:https://doi.org/10.1002/pd.6145
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https://doi.org/10.1002/pd.6145

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