FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands upstream of the CGG repeats. Here, we describe two unre...

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Detalles Bibliográficos
Autores principales: Fernández, Esperanza, Gennaro, Elena, Pirozzi, Filomena, Baldo, Chiara, Forzano, Francesca, Turolla, Licia, Faravelli, Francesca, Gastaldo, Denise, Coviello, Domenico, Grasso, Marina, Bagni, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224343/
https://www.ncbi.nlm.nih.gov/pubmed/30450110
http://dx.doi.org/10.3389/fgene.2018.00442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224343/
https://www.ncbi.nlm.nih.gov/pubmed/30450110
http://dx.doi.org/10.3389/fgene.2018.00442

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