@article{DubailHuberChantepieetal.2018, author = {Johanne Dubail and C{\´e}line Huber and Sandrine Chantepie and Stephan Sonntag and Beyhan T{\"u}ys{\"u}z and Ercan Mihci and Christopher T. Gordon and Elisabeth Steichen-Gersdorf and Jeanne Amiel and Banu Nur and Irene Stolte-Dijkstra and Albertien M. van Eerde and Koen L. van Gassen and Corstiaan C. Breugem and Alexander Stegmann and Caroline Lekszas and Reza Maroofian and Ehsan Ghayoor Karimiani and Arnaud Bruneel and Nathalie Seta and Arnold Munnich and Dulce Papy-Garcia and Muriel De La Dure-Molla and Val{\´e}rie Cormier-Daire}, title = {SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects}, journal = {Nature Communications}, volume = {9}, doi = {10.1038/s41467-018-05191-8}, year = {2018}, }