Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
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DOI: 10.1111/cge.13709
Abstract: Heterozygous microdeletions of chromosome 15q13.3 (MIM: 612001) show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. Rare patients carrying homozygous deletions show… read more here.
Keywords: epileptic encephalopathy; homozygous otud7a; dysfunction; proteasome dysfunction ... See more keywords