Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full mutation (FM alleles ≥ 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an...

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Detalles Bibliográficos
Autores principales: Pandelache, Alison, Baker, Emma K, Aliaga, Solange M., Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523498/
https://www.ncbi.nlm.nih.gov/pubmed/30959842
http://dx.doi.org/10.3390/genes10040279

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523498/
https://www.ncbi.nlm.nih.gov/pubmed/30959842
http://dx.doi.org/10.3390/genes10040279

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