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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

15 Citations (Web of Science)
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