Article

Identification of conserved skeletal enhancers associated with craniosynostosis risk genes

2022-09-01

Abstract excerpt

Craniosynostosis (CS) is a common congenital defect affecting more than 1/2000 infants. Infants with CS have a premature fusion of one or multiple cranial sutures resulting in restricted brain expansion. Single gene mutations account for 15-20% of cases, largely as part of a syndrome, but the majority are nonsyndromic with complex underlying genetics. Two noncoding genomic regions contributing to CS risk were prev...

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Literature Corpus work: a0c3e17e-5ddb-5df9-a7ba-c3795187604e
DOI: 10.1101/2022.09.01.506150

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