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The 22q11 deletion syndrome.A clinical and epidemiological study


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Title: The 22q11 deletion syndrome.A clinical and epidemiological study
Authors: Óskarsdóttir, Sólveig 1953-
Issue Date: 2005
University: Göteborgs universitet/University of Gothenburg
Institution: Department of Paediatrics
Avdelningen för pediatrik
Date of Defence: 2005-06-10
Disputation: Föreläsningssal 1, Drottning Silvias barn- och ungdomssjukhus, Göteborg, kl. 09.00
Publication type: Doctoral thesis
Keywords: 22q11 deletion
disability
dysmorphology
incidence
phenotype
Abstract: Aims: The aims of this study were to 1) assess the incidence and prevalence of the 22q11 deletion syndrome(22q11DS) in a defined population of western Sweden, 2) to evaluate the presenting phenotype and 3)to investigate the profile of cognitive and nervous system-related disabilities and the resulting handicap,taking into account physical, neurological and psychological aspects.Material and Methods: The incidence was studied in children born in the Western Götaland Region,where Göteborg is the m... more
ISBN: 91-628-6533-1
URI: http://hdl.handle.net/2077/16583
Appears in Collections:Doctoral Theses from University of Gothenburg / Doktorsavhandlingar från Göteborgs universitet

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