POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Smallwood et  al. describe a series of individuals with heterozygous variants in POLR1A in association with variable craniofacial, heart, and brain anomalies. Adverse effects of POLR1A perturbation are demonstrated on mouse development in vivo, as well as on rRNA transcription in vitro.

Source: The American Journal of Human Genetics - April 18, 2023 Category: Genetics & Stem Cells Authors: Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Tags: Article Source Type: research