research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome 112 citations , August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Adams–Oliver syndrome: new evidence in variable expressivity? December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases 29 citations , June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
research PA33 When bones speak through nails: insights from a paediatric case series June 2025 in “British Journal of Dermatology” Nail abnormalities in children can indicate deeper health issues.
research Cardiovascular disease risk in women with hyperandrogenism, oligomenorrhea/menstrual irregularity or polycystic ovaries (components of polycystic ovary syndrome): a systematic review and meta-analysis 3 citations , June 2023 in “European heart journal open” Women with irregular periods have a higher risk of heart disease.