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)
 
 
 
 
 

Familial CHARGE syndrome: clinical report with autopsy findings.

We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect ( ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.[1]

References

  1. Familial CHARGE syndrome: clinical report with autopsy findings. Metlay, L.A., Smythe, P.S., Miller, M.E. Am. J. Med. Genet. (1987) [Pubmed]
 
WikiGenes - Universities