Craniofacial features of 3q29 deletion syndrome: application of next generation phenotyping technology.
Bryan C. Mak, Rossana Sanchez Russo, Michael J. Gambello, Nicole Fleischer, Emily D. Black, Elizabeth J. Leslie, Melissa M. Murphy, The Emory 3q29 Project, Jennifer Gladys Mulle
This study identifies a recognizable craniofacial phenotype in 3q29 deletion syndrome using 2D facial photos and machine learning to distinguish cases from controls.
American Journal of Medical Genetics Part A · May 3, 2021Peer-reviewedGenetic & Genomic Medicine