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