Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Tim Van Damme, Xiaomeng Pang, Brecht Guillemyn, Sandrine Gulberti, Delfien Syx, Riet De Rycke, Olivier Kaye, Christine E. M. de Die-Smulders, Rolph Pfundt, Ariana Kariminejad, Sheela Nampoothiri, Genevieve Pierquin, Saskia Bulk, Austin A. Larson, Kathryn C. Chatfield, Marleen Simon, Anne Legrand, Marion Gerard, Sofie Symoens, Sylvie Fournel-GigleuxFransiska Malfait

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)3475-3487
Number of pages13
JournalHuman Molecular Genetics
Volume27
Issue number20
DOIs
Publication statusPublished - 15 Oct 2018

Keywords

  • DESBUQUOIS DYSPLASIA
  • XYLT1 MUTATIONS
  • SKELETAL DYSPLASIA
  • HEPARAN-SULFATE
  • B3GAT3 MUTATION
  • BONE FRAGILITY
  • PROTEOGLYCAN
  • SPECTRUM
  • PATIENT
  • IMAGE

Cite this

Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., Pierquin, G., Bulk, S., Larson, A. A., Chatfield, K. C., Simon, M., Legrand, A., Gerard, M., Symoens, S., ... Malfait, F. (2018). Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Human Molecular Genetics, 27(20), 3475-3487. https://doi.org/10.1093/hmg/ddy234