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A Variant Associated with Sagittal Nonsyndromic Craniosynostosis Alters the Regulatory Function of a Non-Coding Element
Craniosynostosis presents either as a nonsyndromic congenital anomaly or as a finding in nearly 200 genetic syndromes. Our previous genome-wide association study of sagittal nonsyndromic craniosynostosis identified associations with variants downstream from BMP2 and intronic in BBS9. Because no codi...
Gorde:
| Argitaratua izan da: | Am J Med Genet A |
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| Egile Nagusiak: | , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5659764/ https://ncbi.nlm.nih.gov/pubmed/28985029 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38392 |
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