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Pseudoachondroplasia/COMP — translating from the bench to the bedside

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 pentameri...

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Bibliographic Details
Main Authors: Posey, Karen LaShea, Alcorn, Joseph L., Hecht, Jacqueline T.
Format: Artigo
Language:Inglês
Published: 2014
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4209947/
https://ncbi.nlm.nih.gov/pubmed/24892720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.matbio.2014.05.006
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