Screening of UBE3A gene in patients referred for Angelman Syndrome
Evmorfia Tzagkaraki, Christalena Sofocleous, Helen Fryssira-Kanioura, Argyris Dinopoulos, Georgios Goulielmos, Ariadni Mavrou, Sofia Kitsiou‐Tzeli, Emmanuel Kanavakis
Abstract
Evmorfia Tzagkaraki, Christalena Sofocleous, Helen Fryssira-Kanioura, Argyris Dinopoulos, Georgios Goulielmos, Ariadni Mavrou, Sofia Kitsiou‐Tzeli, Emmanuel Kanavakis
Abstract
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Key concepts: UBE3A, Angelman syndrome, Microcephaly, Uniparental disomy, Neurodevelopmental disorder, Genetics, Phenotype, Genomic imprinting