SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Johanne Dubail, Celine Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tuysuz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie SetaArnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valerie Cormier-Daire

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number3087
Number of pages15
JournalNature Communications
Volume9
DOIs
Publication statusPublished - 6 Aug 2018

Keywords

  • HEPARAN-SULFATE PROTEOGLYCANS
  • GROWTH-PLATE
  • GENE
  • CHONDROITIN
  • CALCIUM
  • GLYCOSAMINOGLYCANS
  • PHENOTYPES
  • DISORDERS
  • REGULATOR
  • PROTEINS

Cite this

Dubail, J., Huber, C., Chantepie, S., Sonntag, S., Tuysuz, B., Mihci, E., Gordon, C. T., Steichen-Gersdorf, E., Amiel, J., Nur, B., Stolte-Dijkstra, I., van Eerde, A. M., van Gassen, K. L., Breugem, C. C., Stegmann, A., Lekszas, C., Maroofian, R., Karimiani, E. G., Bruneel, A., ... Cormier-Daire, V. (2018). SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. Nature Communications, 9, [3087]. https://doi.org/10.1038/s41467-018-05191-8