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...

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Detalles Bibliográficos
Autores principales: Martínez‐Cerdeño, Verónica, Lechpammer, Mirna, Noctor, Stephen, Ariza, Jeanelle, Hagerman, Paul, Hagerman, Randi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412812/
https://www.ncbi.nlm.nih.gov/pubmed/28469864
http://dx.doi.org/10.1002/ccr3.834

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412812/
https://www.ncbi.nlm.nih.gov/pubmed/28469864
http://dx.doi.org/10.1002/ccr3.834

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