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Mosaic FMR1 Deletion Causes Fragile X Syndrome and Can Lead to Molecular Misdiagnosis: A Case Report and Review of the Literature
The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5′UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2697959/ https://ncbi.nlm.nih.gov/pubmed/18412117 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32261 |
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