Pseudoachondroplasia

Definition:

Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP.

References:

[1]. Karen L Posey, et al. Role of TSP-5/COMP in pseudoachondroplasia. Int J Biochem Cell Biol. 2004 Jun;36(6):1005-12. [Content Brief]

[2]. S Unger, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001 Winter;106(4):244-50. [Content Brief]

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