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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sociedade Brasileira de Genética
2002-01-01
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| シリーズ: | Genetics and Molecular Biology |
| 主題: | |
| オンライン･アクセス: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002 |
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