JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome
Cécile Crosnier, Tania Attié‐Bitach, Férechté Encha‐Razavi, Sophie Audollent, Fardouss Soudy, Michelle Hadchouel, Michèle Meunier‐Rotival, Michel Vekemans – 30 December 2003 – 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.