Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome

The diagnosis and management of fragile X syndrome (FXS) have significantly improved in the last three decades, although the current diagnostic techniques are not yet able to precisely identify the number of repeats, methylation status, level of mosaicism, and/or the presence of AGG interruptions. A...

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Detalles Bibliográficos
Autores principales: Ciobanu, Cristian-Gabriel, Nucă, Irina, Popescu, Roxana, Antoci, Lucian-Mihai, Caba, Lavinia, Ivanov, Anca Viorica, Cojocaru, Karina-Alexandra, Rusu, Cristina, Mihai, Cosmin-Teodor, Pânzaru, Monica-Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252420/
https://www.ncbi.nlm.nih.gov/pubmed/37298158
http://dx.doi.org/10.3390/ijms24119206

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252420/
https://www.ncbi.nlm.nih.gov/pubmed/37298158
http://dx.doi.org/10.3390/ijms24119206

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