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中文Temtamy Preaxial Brachydactyly Syndrome (TPBS)
Alias:
Preaxial Brachydactyly Syndrome, Temtamy Type
Tpbs
Preaxial Brachydactyly Syndrome Temtamy Type
Brachydactyly, Temtamy, Preaxial, Syndrome
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特曼尼前轴性短指综合征，又称前轴性短指综合征、特曼尼型，与短指和感觉神经性听力损失有关。特曼尼前轴性短指综合征相关的重要基因是CHSY1（硫酸软骨素合成酶1），其相关通路/超通路包括代谢和代谢途径生物转化相I和II。相关组织包括骨和眼，相关表型为异常指形态和拇指掌骨重复
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