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MORC2基因突变致DIGFAN综合征1例报告

陶亮,江伟,肖农

Chinese Journal of Practical Pediatrics（2022）

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Abstract
DIGFAN综合征(MIM 619090)是一种复杂的常染色体显性遗传的神经系统疾病,其致病基因为 MORC2(Microrchidia CW-type zinc finger protein 2,MIM 616661).MORC2基因是相关学者在近年来才发现与人类疾病相联系的,尤其是神经系统疾病[1-3],其突变后的常见表型为腓骨肌萎缩症2Z型[4-6](Charcot-Marie-Tooth disease,CMT,MIM 616688),而近年来已发现DIGFAN综合征为该基因突变的新表型[7].
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