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FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
This is a report of FMR1 premutation with Prader–Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typica...
Gespeichert in:
| Veröffentlicht in: | Clin Case Rep |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
John Wiley and Sons Inc.
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5412812/ https://ncbi.nlm.nih.gov/pubmed/28469864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.834 |
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