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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Main Authors: 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
Formato: Revisão
Idioma:inglés
Publicado: 2022
Acceso en liña:https://doi.org/10.1002/pd.6145
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