PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

A. J. Kämpe, A. Costantini, R. E. Makitie, N. Jäntti, H. Valta, M. Mäyränpää, H. Kröger, M. Pekkinen, F. Taylan, H. Jiao, O. Mäkitie

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalOsteoporosis International
Volume28
Issue number10
Pages (from-to)3023-3032
Number of pages10
ISSN0937-941X
DOIs
Publication statusPublished - Oct 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Children
  • Early-onset osteoporosis
  • Fractures
  • Osteogenesis imperfecta
  • Plastin 3
  • X-Linked osteoporosis
  • OSTEOGENESIS IMPERFECTA
  • PLASTIN 3
  • MUTATIONS
  • CHILDREN
  • MOTONEURONS
  • FRACTURES
  • DIAGNOSIS
  • 3121 General medicine, internal medicine and other clinical medicine

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