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中文Joubert Syndrome 22 (JBTS22)
Alias:
Jbts22
Joubert Syndrome, Type 22
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Joubert 综合征 22，也称为 jbts22，与 Joubert 综合征 1 和多指有关。与 Joubert 综合征 22 有关的重要基因是 PDE6D (Phosphodiesterase 6D)，其相关通路/超级通路包括细胞器生物发生和维护以及 Bardet-Biedl 综合征。附属组织包括肝脏和大脑，相关表型包括后轴手多指和后轴脚多指
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