IQSEC2-related encephalopathy in males due to missense variants in the PH domain.
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DOI: 10.1111/cge.14136
Abstract: Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense… read more here.
Keywords: domain iqsec2; related encephalopathy; variants domain; iqsec2 related ... See more keywords