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

Journal Article published 16 Apr 2018 in American Journal of Medical Genetics Part A volume 176 issue 6 on pages 1405 to 1410

Research funded by Marcus Borgströms Foundation | Magnus Bergvalls Foundation | Kungliga Fysiografiska Sällskapet i Lund | Svenska Sällskapet för Medicinsk Forskning

Authors: Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe