Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, Rene Santer, Jessika Johannsen, Chiara Bacchelli, MarieIle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J. A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo MuellerKai Lehmberg, Tim Strom, Hartmut Engels, Hywel J. Williams, Phil Beales, Ronald Roepmand, Patricia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza-Londono, E. Graham Davies, Sergio B. de Sousa, Davor Lesse, Heleen H. Arts, Taco W. Kuijpers

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)281-296
Number of pages16
JournalAmerican Journal of Human Genetics
Volume100
Issue number2
DOIs
Publication statusPublished - 2 Feb 2017

Keywords

  • HEPARAN-SULFATE PROTEOGLYCANS
  • TUMOR SUPPRESSORS EXT1
  • COPY-NUMBER VARIATION
  • EXOME SEQUENCE DATA
  • DE-NOVO MUTATIONS
  • GENE
  • CLASSIFICATION
  • IDENTIFICATION
  • BIOSYNTHESIS
  • MORPHOGENESIS

Cite this

Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., ... Kuijpers, T. W. (2017). Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. American Journal of Human Genetics, 100(2), 281-296. https://doi.org/10.1016/j.ajhg.2017.01.013