Case report: Exotropia in waardenburg syndrome with novel variations

• Published in: Frontiers in genetics Vol. 13; p. 969680
• Main Authors: Huang, Lijuan, Guo, Maosheng, Li, Ningdong
• Format: Journal Article
• Language: English
• Published: Frontiers Media S.A 02.09.2022
• Subjects: COL11A2; exotropia; Genetics; PAX3; SOX10; waardenburg syndrome

Background: Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the hair, skin and eyes. However, exotropia is rarely reported. The purpose of this study is to describe the clinical characteristics of three spora...