Mutations in NOTCH2 cuase Alagille syndrome (a heterogenous disorder). D. Warthen, R. McDaniell, A. Pai, J.J.D. Morrissette, B.M. Kamath, D.A. Piccoli, I.D. Krantz, N.B.
This demonstrates that AGS is a heterogeneous disorder and implicates NOTCH2 mutations in human disease.
It has been considered a genetically heterogeneous disorder of the Notch signaling pathway.