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.
It has been considered a genetically heterogeneous disorder of the Notch signaling pathway.
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10.