Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

• Váldodahkkit: Shan Li (Dahkki), Yi You (Dahkki), Jinsong Gao (Dahkki), Bin Mao (Dahkki), Yixuan Cao (Dahkki), Xiuli Zhao (Dahkki), Xue Zhang (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2018-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and F...