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中文Curry-Jones Syndrome (CRJS)
Alias:
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development
Corpus Callosum Agenesis-Polysyndactyly Syndrome
Curry-Jones Syndrome, Somatic Mosaic
Crjs
Winter Shortland Temple Syndrome
Curry Jones Syndrome
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卡里-琼斯综合症，又称颅面畸形，不对称，伴有多趾和异常皮肤和肠道发育，与纤维瘤病，牙龈，伴有进行性耳聋和多趾，前轴iv有关。与卡里-琼斯综合症有关的重要基因是SMO（光滑受体，Frizzled类受体）。附属组织包括皮肤和平滑肌，相关表型为双侧眼距增宽和皮肤色素减退斑块
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MALACARDS
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