Lanean...

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2017
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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!