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.
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McCright B et al. (2001) Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation. |
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McDaniell R et al. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. |
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OMIM.ORG article Omim 610205 |