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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three inde...

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Detalles Bibliográficos
Autores principales: Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M., Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701878/
https://www.ncbi.nlm.nih.gov/pubmed/34946857
http://dx.doi.org/10.3390/genes12121909