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中文Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN)
Alias:
Spondyloepiphyseal Dysplasia Nishimura Type
Sedn
Spondyloepiphyseal Dysplasia with Severe Brachydactyly and Cone-Shaped Epiphyses
Mir140-Related Spondyloepiphyseal Dysplasia
Mir140-Related Sed
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脊柱-骨骺发育不良, Nishimura 型, 也称为脊柱-骨骺发育不良-Nishimura 型, 与脊柱-骨骺发育不良-颅缝早闭-腭裂-白内障-智力障碍综合征和骨质疏松症有关。与脊柱-骨骺发育不良, Nishimura 型相关的基因是 MIR140 (微小核糖核酸 140)，其相关通路/超级通路包括 ECM 蛋白聚糖和缺氧、血管生成和 FGF 通路在 OA 软骨细胞肥大中的作用。附属组织包括骨和骨骼肌，相关表型为智力障碍和反复呼吸道感染
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