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The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease

29 Jan 2024

Abstract excerpt

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,...

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PMID: 38285371
DOI: 10.1002/pd.6527

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