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Rare FMR1 gene mutations causing fragile X syndrome: A review
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, typically due to CGG-repeat expansions in the FMR1 gene leading to lack of expression. We identified a rare FMR1 gene mutation (c.413G>A), previously reported in a single patient and reviewed the literature for...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6697153/ https://ncbi.nlm.nih.gov/pubmed/29178241 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38504 |
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