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Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of...
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| Published in: | Genes (Basel) |
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| Main Authors: | , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
MDPI
2016
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5083926/ https://ncbi.nlm.nih.gov/pubmed/27754417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes7100087 |
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