Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

Brito, Florencia; Lagos, Catalina; Cubillos, Jessica; Orellana, Joan; Gajardo, Mallen; Böhme, Daniela; Encina, Gonzalo; Repetto, Gabriela

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Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

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Genomic analysis in chilean patients with suspected.pdf (17.66 MB)

Date

2024

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Article

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Artículos Medicina y Ciencias de la Salud

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76

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12

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https://doi.org/doi:10.3389/fgene.2024.1278198

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https://hdl.handle.net/11447/8558

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Abstract

Introduction: Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the MECP2 gene. The diagn...

Citation

Brito, F., Lagos, C., Cubillos, J., Orellana, J., Gajardo, M., Böhme, D., Encina, G., & Repetto, G. M. (2024, March 18). Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis. Frontiers in Genetics, 15. https://doi.org/10.3389/fgene.2024.1278198

Keywords

Rett syndrome , MeCP2 , CpG methyl-binding protein , Neurodevelopmental disorders , Gene panel , Genomic testing

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