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中文Cardiofaciocutaneous Syndrome 1 (CFC1)
Alias:
Cardiofaciocutaneous Syndrome
Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome
Cfc1
Cfcs
Cardiofaciocutaneous Syndrome, Type 1
Cardio-Facial-Cutaneous Syndrome
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先天性心脏病-面-皮综合征1，也被称为先天性心脏病-面-皮综合征，与先天性心脏病-面-皮综合征3和科斯特洛综合征有关。与先天性心脏病-面-皮综合征1相关的基因是BRAF（B-Raf原癌基因，丝氨酸/苏氨酸激酶），其相关通路/超级通路包括传染病和ERK信号通路。该病与药物氧化锌有关。相关组织包括皮肤和心脏，相关表型为智力障碍和肌张力低下。
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