Musculoskeletal phenotypes in 3q29 deletion syndrome
Rebecca M. Pollak, Jacob C. Tilmon, Melissa M. Murphy, Michael J. Gambello, Rossana Sanchez Russo, John P. Dormans, Jennifer Gladys Mulle
This study describes musculoskeletal phenotypes in 3q29 deletion syndrome, finding high prevalence of congenital anomalies and bone fractures.
American Journal of Medical Genetics Part A · Sep 10, 2023Peer-reviewedGenetic & Genomic Medicine