Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Ivo J. H. M. de Vos*, Arnette Shi Wei Wong, Tim J. M. Welting, Barry J. Coull, Maurice A. M. van Steensel

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Original languageEnglish
Pages (from-to)1652-1664
Number of pages13
JournalAmerican Journal of Medical Genetics Part A
Volume179
Issue number8
DOIs
Publication statusPublished - Aug 2019

Keywords

  • ECM remodeling
  • MMP14
  • MMP2
  • podosomes
  • SH3PXD2B
  • TER HAAR SYNDROME
  • MATRIX-METALLOPROTEINASE MT1-MMP
  • HOMOZYGOUS MMP2 MUTATION
  • MELNICK-NEEDLES SYNDROME
  • EXTRACELLULAR-MATRIX
  • CELL-SURFACE
  • ACID MUCOPOLYSACCHARIDOSIS
  • SKELETAL DEFORMITIES
  • PROMMP-2 ACTIVATION
  • WINCHESTER-SYNDROME

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