Pseudoachondroplasia/COMP — translating from the bench to the bedside

@inproceedings{Posey2014PseudoachondroplasiaCOMPT,
  title={Pseudoachondroplasia/COMP — translating from the bench to the bedside},
  author={Karen LaShea Posey and Joseph L. Alcorn and Jacqueline Tauber Hecht},
  booktitle={Matrix biology : journal of the International Society for Matrix Biology},
  year={2014}
}
Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. PSACH is caused by mutations in thrombospondin-5 (TSP-5, also known as cartilage oligomeric matrix protein or COMP), a pentameric extracellular matrix protein primarily expressed in chondrocytes and musculoskeletal tissues. The thrombospondin gene family is composed of matricellular proteins that associate with the… CONTINUE READING
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