Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Abstract

IntroductionPathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of...