About
Contact & Profiles
A5093810942
Research Areas
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Congenital heart defects research
Johns Hopkins University
2024
Johns Hopkins Medicine
2024
Abstract Objective GREB1L has been linked prenatally to Potter's sequence, as well less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. purpose this study was characterize known novel pre‐ postnatal phenotypes associated with . Methods We solicited cases from Fetal Sequencing Consortium, screened a population‐based genomic database, conducted comprehensive literature search identify disease present detailed molecular changes. Results One...
10.1002/pd.6527
article
EN
Prenatal Diagnosis
2024-01-29
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