,

Mariana Coelho1, João Durães1,2, João Freixo3

  • 1Serviço de Neurologia do Centro Hospitalar e Universitário de Coimbra (CHUC).

概括

泽尔韦格谱系障碍 (ZSD) 是一种具有不同严重程度的遗传疾病. 一个PEX1基因变异 (c.2528G>A) 表明一个中间的ZSD表型,允许生存到成年.

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