Articles with "digenic impairments" as a keyword



Digenic impairments of haploinsufficient genes in patients with craniosynostosis

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Published in 2025 at "JCI Insight"

DOI: 10.1172/jci.insight.176985

Abstract: Craniosynostosis (CRS) is characterized by the development of abnormal cranial suture ossification and premature fusion. Despite the identification of several associated genetic disorders, the genetic determinants of CRS remain poorly understood. In this study, we… read more here.

Keywords: digenic impairments; haploinsufficient genes; within haploinsufficient; impairments haploinsufficient ... See more keywords