Joseph Farris, Cheryl Khanna, James B Smadbeck, Sarah H Johnson, Erick Bothun, Tyler Kaplan, Francis Hoffman, Katarzyna Polonis, Gavin Oliver, Linda M Reis, Elena V Semina, Laura Rust, Nicole L Hoppman, George Vasmatzis, Cherisse A Marcou, Lisa A Schimmenti, Eric W Klee
Axenfeld-Rieger Syndrome (ARS) type 1 is a rare autosomal dominant condition characterized by anterior chamber anomalies, umbilical defects, dental hypoplasia, and craniofacial anomalies, with Meckel's diverticulum in some individuals. Here, we describe a clinically ascertained female of childbearing age with ARS for whom clinical targeted sequencing and deletion/duplication analysis followed by clinical exome and genome sequencing resulted in no pathogenic variants or variants of unknown significance in PITX2 or FOXC1...
January 17, 2024: American Journal of Medical Genetics. Part A