Article
[Three cases of Pallister-Killian syndrome].
Revista de neurologia - 16 Jan 2014
Toledo-Bravo de Laguna Laura, del Campo-Casanelles Miguel, Santana-Rodriguez Alfredo, Santana-Artiles Alexandre, Sebastian-Garcia Irma, Cabrera-Lopez José Carlos
Abstract excerpt
INTRODUCTION: Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of...
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