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IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. We report a family with an apparent XLID pattern with th...
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| Yayımlandı: | Eur J Med Genet |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5438265/ https://ncbi.nlm.nih.gov/pubmed/21933724 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2011.08.004 |
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