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中文Osteopoikilosis
Alias:
Dermatofibrosis Lenticularis Disseminata
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骨皮质缺损症，又称皮肤纤维瘤病，与12q14微缺失综合症和孤立性骨硬化症有关，症状包括关节僵硬。与骨皮质缺损症有关的重要基因是LEM D3（LEM域包含3），其相关通路/超级通路包括Wnt / Hedgehog / Notch和中胚层承诺通路。附属组织包括骨和乳腺，相关表型包括生长/大小/身体区域和细胞
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