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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul; 79(1):169-73.

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