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,Volume 176, Issue 6, Page 1405-1410, June 2018.

Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: Eva ‐LenaStattin , JosefinJohansson , SannaGudmundsson , AdamAmeur , StaffanLundberg , Marie‐LouiseBondeson , MariaWilbe Source Type: research