Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation
Valenzuela, Irene, Fernández-Alvarez, Paula, Munell, Francina, Sanchez-Montanez, Angel, Giralt, Gemma, Vendrell, Teresa, Tizzano, Eduardo F.Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2017.03.010
Date:
March, 2017
File:
PDF, 703 KB
english, 2017