| Entry |
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| Name |
Pseudoachondroplasia (PSACH)
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| 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.
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| Category |
Skeletal dysplasia
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Unger S, Hecht JT |
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| Title |
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. |
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| Journal |
Am J Med Genet 106:244-50 (2001) |
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| Reference |
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| Authors |
Posey KL, Hayes E, Haynes R, Hecht JT |
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| Title |
Role of TSP-5/COMP in pseudoachondroplasia. |
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| Journal |
Int J Biochem Cell Biol 36:1005-12 (2004) |
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