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The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome
2Iq23.1 microdeletion syndrome is a recently described rare disease that includes intellectual disability, motor delay, autistic-like behaviors, and craniofacial abnormalities. Dosage insufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene was suggested as the genetic cause, since all t...
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| Yayımlandı: | Rare Dis |
|---|---|
| Asıl Yazarlar: | , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Taylor & Francis
2014
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4755234/ https://ncbi.nlm.nih.gov/pubmed/26942102 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/2167549X.2014.967151 |
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