Ontology highlight
ABSTRACT:
SUBMITTER: Justice CM
PROVIDER: S-EPMC5659764 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Justice Cristina M CM Kim Jinoh J Kim Sun-Don SD Kim Kyunhgho K Yagnik Garima G Cuellar Araceli A Carrington Blake B Lu Chung-Ling CL Sood Raman R Boyadjiev Simeon A SA Wilson Alexander F AF
American journal of medical genetics. Part A 20171006 11
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 coding variants in BMP2 were identified, we hypothesized that conserved non-coding regulatory elements may alter BMP2 expression. In order to identify and characterize noncoding regulatory elements near B ...[more]