A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree.
Bi Ning ZhangTommy Chung Yan ChanPancy Oi Sin TamYu LiuChi Pui PangVishal JhanjiGuy L J ChenWai-Kit ChuPublished in: Disease markers (2019)
We report a family of peripheral sclerocornea with no association with cornea plana. A RAD21 variant was found cosegregating with peripheral sclerocornea. Our results suggest that RAD21 functions, other than its cell cycle and chromosome segregation regulations, could underline the pathogenesis of peripheral sclerocornea.