Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outi Mäkitie, Alice Costantini

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number10660
JournalJBMR plus
Volume6
Issue number8
Number of pages9
ISSN2473-4039
DOIs
Publication statusPublished - Aug 2022
MoE publication typeA1 Journal article-refereed

Fields of Science

  • AMER1
  • MOSAICISM
  • RUNX2
  • SKELETAL DYSPLASIA
  • WHOLE-GENOME SEQUENCING
  • OSTEOPATHIA STRIATA
  • CRANIAL SCLEROSIS
  • CLEIDOCRANIAL DYSPLASIA
  • SOMATIC MOSAICISM
  • RUNX2 GENE
  • MICRODELETION
  • REGION
  • CHILD
  • 3121 General medicine, internal medicine and other clinical medicine

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