FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome

Key Clinical Message 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...

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Autores principales: Verónica Martínez‐Cerdeño, Mirna Lechpammer, Stephen Noctor, Jeanelle Ariza, Paul Hagerman, Randi Hagerman
Formato: Artigo
Lenguaje:Inglês
Publicado: Wiley 2017-05-01
Colección:Clinical Case Reports
Materias:
FMR1
Fragile X
FXTAS
inclusions
neurons
Prader–Willi
Acceso en línea:https://doi.org/10.1002/ccr3.834
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