Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
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DOI: 10.1002/humu.23675
Abstract: The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6‐year‐old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile‐onset seizures,… read more here.
Keywords: uniparental disomy; microdeletion; homozygous microdeletion; early infantile ... See more keywords