Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen, Paulien A. Terhal, Lorenzo D. Botto, Petra Henning, Riikka E. Mäkitie, Paul Roschger, Amrita Jain, Matthijs Kol, Matti A. Kjellberg, Eleftherios P. Paschalis, Koen van Gassen, Mary Murray, Pinar Bayrak-Toydemir, Maria K. Magnusson, Judith Jans, Mehran Kausar, John C. Carey, Pentti Somerharju, Ulf H. Lerner, Vesa M. OlkkonenKlaus Klaushofer, Joost C. M. Holthuis, Outi Mäkitie

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number126180
JournalJCI INSIGHT
Volume4
Issue number7
Number of pages20
ISSN2379-3708
DOIs
Publication statusPublished - 4 Apr 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • MINERALIZATION DENSITY DISTRIBUTION
  • CALVARIAL DOUGHNUT LESIONS
  • RELATIVE QUANTIFICATION
  • NORMATIVE DATA
  • SPHINGOMYELIN
  • OSTEOGENESIS
  • METABOLISM
  • MUTATIONS
  • SPHINGOSINE-1-PHOSPHATE
  • OSTEOPETROSIS
  • 3111 Biomedicine

Cite this

Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, P., Mäkitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Gassen, K., Murray, M., Bayrak-Toydemir, P., Magnusson, M. K., Jans, J., Kausar, M., Carey, J. C., Somerharju, P., Lerner, U. H., ... Mäkitie, O. (2019). Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI INSIGHT, 4(7), [126180]. https://doi.org/10.1172/jci.insight.126180