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Broad Clinical Involvement in a Family Affected by the Fragile X Premutation
The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders (FXD) including fragile X syndrome (FXS), fragile X-associated tremor/ ataxia syndrome (FXTAS), primary ovarian insufficiency and other problems associated with the premutation, such as...
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Main Authors: | , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2009
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2822648/ https://ncbi.nlm.nih.gov/pubmed/19996900 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/DBP.0b013e3181c35f25 |
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