A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report

• Main Authors: Xiaodong Yang (Author), Siyu Pu (Author), Bo Xiang (Author), Xueyang Tang (Author), Jing Chen (Author)
• פורמט: ספר
• יצא לאור: BMC, 2023-08-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3)...