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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

X-linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X-linked congenital nystagmus with an affected woman. She was a (46,XX/45,X) mosaic. Magnetic resonance images of the brain of affected individuals were normal.[1]

References

  1. Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. Gutmann, D.H., Brooks, M.L., Emanuel, B.S., McDonald-McGinn, D.M., Zackai, E.H. Am. J. Med. Genet. (1991) [Pubmed]
 
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