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Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

BACKGROUND: Angelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile. Typically, AS results from absent maternal expression of UBE3A, but some individuals have imprinting defects in a...

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Detalles Bibliográficos
Autores principales: Carson, Robert P., Bird, Lynne, Childers, Anna K., Wheeler, Ferrin, Duis, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732290/
https://www.ncbi.nlm.nih.gov/pubmed/31400086
http://dx.doi.org/10.1002/mgg3.837