KEGG   DISEASE: H00477Help
Entry
H00477                      Disease                                

Name
Pseudoachondroplasia (PSACH)
Description
Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossifcation delay. PSACH is caused by mutations in COMP.
Category
Skeletal dysplasia
BRITE hierarchy
Gene
COMP [HSA:1311] [KO:K04659]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:11891674 (description, gene)
  Authors
Unger S, Hecht JT
  Title
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
  Journal
Am J Med Genet 106:244-50 (2001)
Reference
PMID:15094116 (description, gene)
  Authors
Posey KL, Hayes E, Haynes R, Hecht JT
  Title
Role of TSP-5/COMP in pseudoachondroplasia.
  Journal
Int J Biochem Cell Biol 36:1005-12 (2004)

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