The genomic and clinical landscape of fetal akinesia
Abstract
Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA).We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative...
Paper Details
Title
The genomic and clinical landscape of fetal akinesia
Published Date
Mar 1, 2020
Journal
Volume
22
Issue
3
Pages
511 - 523
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