Article
Screening of UBE3A gene in patients referred for Angelman Syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2013
Tzagkaraki Evmorfia, Sofocleous Christalena, Fryssira-Kanioura Helen, Helen Fryssira-Kanioura, Dinopoulos Argyris, Goulielmos Georgios, Mavrou Ariadni, Kitsiou-Tzeli Sofia, Sofia Kitsiou-Tzeli, Kanavakis Emmanuel
Abstract excerpt
Angelman Syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, speech impairment and unique behaviors including inappropriate laughter and happy disposition. AS is related to deficient maternal UBE3A gene expression caused either by chromosomal deletions, uniparental disomy, molecular defects of the imprinted 15q11-q13 critical region or by loss of function mutations in the...
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