Pseudoachondroplasia: A case report
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present t...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Serbian Medical Society
2013-01-01
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| シリーズ: | Srpski Arhiv za Celokupno Lekarstvo |
| 主題: | |
| オンライン･アクセス: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791310676R.pdf |
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