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中文Cole-Carpenter Syndrome 1 (CLCRP1)
Alias:
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features
Clcrp1
Cole-Carpenter Syndrome, Type 1
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科尔-卡朋特综合症1，又称颅缝早闭、眼球突出、脑积水和独特的面部特征伴骨质疏松，与科尔-卡朋特综合症2和卡朋特综合症1有关。科尔-卡朋特综合症1的一个重要相关基因是P4HB（脯氨酸4-羟化酶亚基β）。相关组织包括骨和肝，相关表型包括脊柱侧弯和骨质疏松。
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