Publication: Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis
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Authors
Brito, Florencia
Lagos, Catalina
Cubillos, Jessica
Orellana, Joan
Gajardo, Mallen
Böhme, Daniela
Encina, Gonzalo
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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...
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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
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