Publication
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Sheila Unger, Ekkehart Lausch, Antonio Rossi, Andre Mégarbané, David Sillence, Melanie Alcausin, Antonio Aytes, Roberto Mendoza‐Londono, Sheela Nampoothiri, Bushra Afroze, Bryan Hall, Ivan F.M. Lo, Stephen T.S. Lam, Julia Hoefele, Imma Rost, Emma Wakeling, Elisabeth Mangold, Komudi Godbole, Nithiwat Vatanavicharn, Luis M. Franco, Kate Chandler, Sophia Hollander, Tanja Velten, Kerstin Reicherter, Jürgen Spranger, Stephen Robertson, Luisa Bonafé, Bernhard Zabel, Andrea Superti‐Furga
American Journal of Medical Genetics Part A, September 2010, Wiley
DOI: 10.1002/ajmg.a.33641