Article
[Angelman syndrome: physical characteristics and behavioural phenotype in 37 patients with confirmed genetic diagnosis].
Revista de neurologia - 1 Jan 2000
Galván-Manso M, Campistol J, Monros E, Póo P, Vernet A M, Pineda M, Sans A, Colomer J, Conill J J, Sanmartí F X
Abstract excerpt
INTRODUCTION: Angelman syndrome (AS) is characterised by mental retardation, ataxic gait, epilepsy, absence of language and a special series of physical traits behavioural phenotype. Its incidence is estimated as one in every 20,000 individuals. On the basis of discoveries made in molecular biolo...
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