Article
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Nature genetics - 1 Nov 2000
Bamford R N, Roessler E, Burdine R D, Saplakoğlu U, dela Cruz J, Splitt M, Goodship J A, Towbin J, Bowers P, Ferrero G B, Marino B, Schier A F, Shen M M, Muenke M, Casey B
Abstract excerpt
All vertebrates display a characteristic asymmetry of internal organs with the cardiac apex, stomach and spleen towards the left, and the liver and gall bladder on the right. Left-right (L-R) axis abnormalities or laterality defects are common in humans (1 in 8,500 live births). Several genes (such as Nodal, Ebaf and Pitx2) have been implicated in L-R organ positioning in model organisms. In humans, relatively...
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