Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes.

ABSTRACT: Birth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin resulting from complex gene-environment interactions. Definition of specific gene-environment interactions in the etiology and pathogenesis of congenital disorders is critically needed in the absence of genotype-phenotype correlation but is challenging. This is particularly true for congenital craniofacial anomalies, which account for approximately one-third of all birth defects, as they typically exhibit considerable inter- and intrafamilial variability. A classic example of this is Treacher Collins syndrome (TCS), which, although primarily caused by mutations in treacle ribosome biogenesis factor 1 (TCOF1), is characterized by considerable variability in the severit

SUBMITTER: Fitriasari S 

PROVIDER: S-EPMC12483615 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature