The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none of their sons are affected. Here we report data confirming that CFNS is X-linked, mapping to a 13 cM interval in Xp22 with a maximum two-point lod score of 3.9 (theta = 0) at DXS8022 and a multipoint lod score of 5.08 at DXS1224. Detailed phenotypic analysis shows that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance.[1]

References

  1. A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Feldman, G.J., Ward, D.E., Lajeunie-Renier, E., Saavedra, D., Robin, N.H., Proud, V., Robb, L.J., Der Kaloustian, V., Carey, J.C., Cohen, M.M., Cormier, V., Munnich, A., Zackai, E.H., Wilkie, A.O., Price, R.A., Muenke, M. Hum. Mol. Genet. (1997) [Pubmed]
 
WikiGenes - Universities