Disease: Cholestasis pigmentary retinopathy cleft palate
- <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
- Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals
- De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Hardikar syndrome
- Hardikar syndrome: a case requiring liver transplantation
- Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis
- Hardikar syndrome: new features
- Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?
- MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features
- Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?