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Updated: Jul 3, 2025

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病例报告:在CHN1基因中发现了一种新型变异p.Gly215Arg,该变异导致莫比乌斯综合征

Carmen Manso-Bazús1, Nino Spataro1, Elisabeth Gabau2

  • 1Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.

Frontiers in genetics
|February 15, 2024
PubMed
概括

一个罕见的莫比乌斯综合征 (MBS) 病例揭示了一个新的遗传原因. 现在,CHN1基因的致病变体与MBS和类似的先天性疾病有关.

关键词:
在CHN1中,遗传性失神综合征 遗传性失神综合征基因诊断 基因诊断 是一种基因诊断.莫比乌斯综合征是什么意思这种新型变种是新奇的.

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Pleiotropy

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