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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing...
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| Yayımlandı: | eLife |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , , , , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
eLife Sciences Publications, Ltd
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5045293/ https://ncbi.nlm.nih.gov/pubmed/27606499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.20125 |
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