Alagille syndrome 2
Alagille syndrome 2 is an autosomal dominant disorder caused by mutations of the NOTCH2 gene. Clinical features include renal cysts , skeletal abnormalities, cholestasis, and pulmonary artery stenosis.
McCright B et al. (2001) Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation.[^]
McDaniell R et al. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.[^]
OMIM.ORG articleOmim 610205 [^]