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

Publication:
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

Type:

Article

Collections

Artículos Medicina y Ciencias de la Salud

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83

Vistas totales

12

Métricas

Gestores bibliográficos

Authors

Brito, Florencia

Lagos, Catalina

Cubillos, Jessica

Orellana, Joan

Gajardo, Mallen

Böhme, Daniela

Encina, Gonzalo

Repetto, Gabriela

item.page.doiurl

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

URI

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

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Acceso Abierto

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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