A de novo mutation of SALL4 in a Chinese family with Duane Radial Ray Syndrome and expanding the phenotypic spectrum

Introduction: : Duane-radial ray syndrome (DRRS), also known as Okihiro syndrome, is a rare autosomal dominant disorder characterized by the association of Duane anomaly and radial ray malformations. Method: ： In this study, we report a de novo mutation of the SALL4 gene in a Chinese girl affected by DDRS, leading to an array