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CFC1

MIM.605194 2q21.1

Tuesday 24 July 2007

Genes of the EGFs-CFCs family encode extracellular proteins that play key roles in intercellular signaling pathways during vertebrate embryogenesis.

Pathology

- germline mutations in

See also

- CRIPTO (TDGF1) (MIM.187395)
- nodal signalling
- axial and lateral mesoderm
- mouse gastrulation
- left-right axis formation

References

- Bamford, R. N.; Roessler, E.; Burdine, R. D.; Saplakoglu, U.; dela Cruz, J.; Splitt, M.; Towbin, J.; Bowers, P.; Marino, B.; Schier, A. F.; Shen, M. M.; Muenke, M.; Casey, B. : Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nature Genet. 26: 365-369, 2000. PubMed ID : 11062482

- Goldmuntz, E.; Bamford, R.; Karkera, J. D.; dela Cruz, J.; Roessler, E.; Muenke, M. : CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am. J. Hum. Genet. 70: 776-780, 2002. PubMed ID : 11799476