Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Based on the inheritance pattern, EDS can be classified as autosomal dominant, autosomal recessive, and autosomal dominant or recessive. In each of these types, a set of major and minor criteria is ...