Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Auteurs : Dabaj I, Carlier RY, Dieterich K, Desguerre I, Faure J, Romero NB, Trang W, Quijano-Roy S, Germain DP.
