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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Bibliographic Details
Main Author: Fridman,Cintia (author)
Other Authors: Varela,Monica C. (author), Valente,Kette (author), Marques-Dias,Maria J. (author), Koiffmann,Célia P. (author)
Format: article
Language:eng
Published: 2002
Subjects:
Angelman syndrome
uniparental disomy
macrosomy
macrocephaly
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002
Country:Brazil
Oai:oai:scielo:S1415-47572002000200002

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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002

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