Mutations of the JAGGED1 gene, encoding a NOTCH receptor ligand, cause Alagille
syndrome (AGS), a complex malformative disorder affecting mainly the liver, heart,
vertebrae, eye, and face. Minor and occasional features involving kidney, pharynx, systemic
arteries, skeleton, and ear are in some cases associated with the syndrome. To describe the
expression of JAGGED1 during human embryogenesis and to study its relationship with all
the features of AGS, we performed in situ hybridization studies on human embryos and fetal …