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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| 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 |