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Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean ag...

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Main Authors: Smith, A, Marks, R, Haan, E, Dixon, J, Trent, R J
Formato: Artigo
Idioma:Inglês
Publicado: 1997
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050954/
https://ncbi.nlm.nih.gov/pubmed/9152844
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