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中文Abcd Syndrome (ABCDS)
Alias:
Abcds
Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness
Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut and Deafness
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ABCD 综合症，也被称为 abcds，与轻度认知障碍和全肠无神经节有关。与 ABCD 综合症相关的重要基因是 EDNRB（内皮素受体类型 B），其相关通路/超级通路包括神经科学和 Reelin 通路（Cajal-Retzius 细胞）。附属组织包括小肠和脊髓，相关表型包括听力障碍和无神经节巨结肠。
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MALACARDS
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