A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases

American Journal of Medical Genetics Part A, EarlyView.

Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: Eva ‐LenaStattin , JosefinJohansson , SannaGudmundsson , AdamAmeur , StaffanLundberg , Marie‐LouiseBondeson , MariaWilbe Source Type: research