Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L Vora, Kelly L Gilmore, Jessica L Giordano, Ronald J Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C Jelin, Ali G Gharavi, Thomas Hays
OBJECTIVE: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L. METHODS: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L...
January 29, 2024: Prenatal Diagnosis