Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. — المؤلف: Davids, Mariska — Human mutation 20200306
- المؤلف
- Davids, Mariska
- النشر
- Human mutation 20200306
- الوصف
- 42-47 p.
- الموضوعات
- Adult؛ Base Sequence؛ Child؛ Chromosome Deletion؛ Chromosomes, Human, Pair 16؛ Female؛ Heparan Sulfate Proteoglycans؛ Homozygote