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中文Metaphyseal Anadysplasia
Alias:
Maroteaux-Verloes-Stanescu Syndrome
Regressive Metaphyseal Dysplasia
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骨骺发育不良，也称为马罗特-维洛斯-斯坦尼斯库综合症，与脊柱侧弯和骨骺发育不良2有关。与骨骺发育不良相关的基因是MMP13（基质金属蛋白酶13），其相关通路/超级通路包括胶原链三聚体化和细胞外基质组织。相关组织包括骨，相关表型为长骨弯曲和关节僵硬
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