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Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identifi...
Kaydedildi:
| Yayımlandı: | Hum Genome Var |
|---|---|
| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5874397/ https://ncbi.nlm.nih.gov/pubmed/29619234 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.7 |
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