Article
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Scientific reports - 12 Apr 2024
Musolf Anthony M, Justice Cristina M, Erdogan-Yildirim Zeynep, Goovaerts Seppe, Cuellar Araceli, Shaffer John R, Marazita Mary L, Claes Peter, Weinberg Seth M, Li Jae, Senders Craig, Zwienenberg Marike, Simeonov Emil, Kaneva Radka, Roscioli Tony, Di Pietro Lorena, Barba Marta, Lattanzi Wanda, Cunningham Michael L, Romitti Paul A, Boyadjiev Simeon A
Abstract excerpt
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS phenotype. Previous genome-wide association and targeted sequencing analyses of sNCS have identified multiple associated loci, with the strongest association on chromosome 20....
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