P623: Prenatal diagnosis of a RNU4ATAC-related disorder detected by whole genome sequencing not seen by exome sequencing on the initial proband

Authors

L Pilchman
B Coleman
A Fisher
Natasha Combs MS, Lehigh Valley Health NetworkFollow
K Kaufmann
J Moldenhauer
J Gebb

Publication/Presentation Date

2023

Volume

1

Issue

1

Published In/Presented At

https://doi.org/10.1016/j.gimo.2023.100679

Disciplines

Medicine and Health Sciences

Department(s)

Department of Medicine

Document Type

Article