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中文Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)
Alias:
Sedaghatian Chondrodysplasia
Smds
Spondylometaphyseal Dysplasia Sedaghatian Type
Congenital Lethal Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia, Congenital Lethal
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脊椎骨和骨盆骨发育不良，赛达格哈提亚型，也被称为赛达格哈提亚软骨发育不良，与操作性发育不良和脊椎骨和骨盆骨发育不良，斯特鲁德威克型有关。与脊椎骨和骨盆骨发育不良，赛达格哈提亚型相关的重要基因是GPX4（谷胱甘肽过氧化酶4）。附属组织包括骨和心脏，相关表型为骨骼成熟延迟和房室传导阻滞
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