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...

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Udgivet i:Am J Med Genet A
Main Authors: Justice, Cristina M., Kim, Jinoh, Kim, Sun-Don, Kim, Kyunhgho, Yagnik, Garima, Cuellar, Araceli, Carrington, Blake, Lu, Chung-Ling, Sood, Raman, Boyadjiev, Simeon A., Wilson, Alexander F.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang: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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