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-Gigleux*Fransiska Malfait*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Web of Science)
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

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