ESPE Abstracts

Background: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia, anterior midline abnormality and pituitary hormone deficiency. Mutations of several genes are known to cause SOD related condition, such as HESX1, SOX2, SOX3, and OTX2, but mutations of WDR11 has not been reported in SOD.Objective: Reporting the first SOD patient identified a mutation in WDR11.<p cl...