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两个兄弟姐妹患有与PEX11B相关的过氧体生物发生障碍

Somayeh Khoddam1, Neda Kamal1, Amirmasoud Shiri2

  • 1Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

European journal of medical genetics
|February 29, 2024
PubMed
概括

这项研究确定了一种新的PEX11β基因变异,在两个兄弟姐妹中导致过氧体生物发生障碍14B. 这些发现扩大了这种罕见遗传疾病的已知遗传原因.

关键词:
行为问题 行为问题出生性白内障是一种先天性白内障.智力障碍 智力障碍是一种智力障碍.神经系统异常 神经系统异常在PBD14B中,过氧体性疾病是什么?

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