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MIM.601265 Chr.10

Tuesday 24 July 2007

NODAL is a member of the TGF-beta gene family (TGFBs) and is expressed during mouse gastrulation.

Nodal has a left-sided expression pattern that is disrupted in mouse models of LR axis development.


- heterozygous arg182-to-gln (R183Q) mutation in the prodomain of the NODAL gene in familial situs ambiguus


- Gebbia, M.; Ferrero, G. B.; Pilia, G.; Bassi, M. T.; Aylsworth, A. S.; Penman-Splitt, M.; Bird, L. M.; Bamforth, J. S.; Burn, J.; Schlessinger, D.; Nelson, D. L.; Casey, B. : X-linked situs abnormalities result from mutations in ZIC3. Nature Genet. 17: 305-308, 1997. PubMed ID : 9354794