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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Main Authors: Cintia Fridman, Monica C. Varela, Kette Valente, Maria J. Marques-Dias, Célia P. Koiffmann
格式: Artigo
語言:Inglês
出版: Sociedade Brasileira de Genética 2002-01-01
叢編:Genetics and Molecular Biology
主題:
Angelman syndrome
uniparental disomy
macrosomy
macrocephaly
在線閱讀:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002
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