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A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder and is characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. Although the maternal chromosomal region 15q11.2‐q13 deletion is the most common mechanism of AS,...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000933/ https://www.ncbi.nlm.nih.gov/pubmed/35225435 http://dx.doi.org/10.1002/mgg3.1883 |