A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis.
Yentl HuybrechtsNatasha M Appelman-DijkstraEllen SteenackersWouter Van BeylenGeert R MortierGretl HendrickxWim Van HulPublished in: The Journal of clinical endocrinology and metabolism (2024)
In conclusion, this study indicates that somatic variants in the CTNNB1 gene could explain the pathogenesis of unsolved cases of osteopathia striata.