首页> Genes> A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the <i>NXF5</i> Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the <i>NXF5</i> Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

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第一作者： Yessica Yesenia,Tapia

第一单位： Laboratory of Cytogenetic, Service of Laboratory Medicine, Department of Diagnostic and Technology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

作者： Yessica Yesenia,Tapia ^[1] ; Claudia,Ciaccio ^[2] ; Merve Begüm,Bacınoğlu ^[3] ; Stefano,D'Arrigo ^[2] ; Francesca Luisa,Sciacca ^[1]

作者单位： Laboratory of Cytogenetic, Service of Laboratory Medicine, Department of Diagnostic and Technology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy. ^[1] Unit of Infantile Neuropsychiatry, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy. ^[2] Unit of Laboratory Medicine, Laboratory of Clinical Pathology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy. ^[3]

关键词 NXF5 autism spectrum disorders intellectual disability microdeletion Xq22.1

医学主题词人类(Humans);DNA拷贝数变异(DNA Copy Number Variations);外显子(Exons);内含子(Introns);RNA结合蛋白质类(RNA-Binding Proteins);序列缺失(Sequence Deletion)

DOI 10.3390/genes16050571

PMID 40428393

发布时间 2025-06-09

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