Phenotypic and behavioral variability within Angelman Syndrome group with UPD
The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral vari...
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| Outros Autores: | , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2002
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| Assuntos: | |
| Texto completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002 |
| País: | Brasil |
| Oai: | oai:scielo:S1415-47572002000200002 |