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中文Waardenburg Syndrome
Alias:
Waardenburg's Syndrome
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome
Waardenburg, Types I and/or Ii
Waardenburg Syndrome, Type 4a
Waardenburg Shah Syndrome
Waardenburgs Syndrome
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瓦登伯格综合症，也称为瓦登伯格综合症，与瓦登伯格综合症3型和瓦登伯格综合症4c型有关。与瓦登伯格综合症相关的基因是PAX3（配对盒3），其相关通路/超级通路包括发育、血管紧张素激活ERK和胚胎诱导多能干细胞和特异性标记物。附属组织包括皮肤和眼睛，相关表型为听力障碍和面部异常形状。
Related ID：
MESH：D014849
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MALACARDS
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