Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls
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DOI: 10.1007/s13312-018-1336-y
Abstract: ObjectiveTo assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome.DesignDescriptive study.SettingTertiary-care medical genetics center.PatientsGirls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical… read more here.
Keywords: testing mecp2; group; rett syndrome; mecp2 gene ... See more keywords