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中文Cousin Syndrome (COUSS)
Alias:
Pelviscapular Dysplasia
Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
Familial Pelvis-Scapular Dysplasia
Couss
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表兄综合症，又名盆骨-肩胛骨发育不良，与致死性隐性软骨发育不良有关。与表兄综合症有关的重要基因是TBX15（T-Box转录因子15）。附属组织包括骨和皮肤，相关表型为巨脑和短颈
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Basic Information
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MALACARDS
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MGI
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