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

A report of paracentric inversion of chromosome 8 in Moebius syndrome.

An eight-year-old girl with bilateral facial paresis and restricted eye movements was diagnosed with Moebius syndrome. A chromosomal analysis showed a paracentric inversion on the long arm of chromosome 8 (46, XX, inv(8) (q21.3q24.13)). Candidate genes have been found on chromosomes 3q21, 10q21, and 13q12. We discuss the genes which are known to have associated ocular movement dysfunction in the 8q21-24 region. We hope this case will add to the current body of knowledge regarding Moebius syndrome and its genetics.[1]

References

  1. A report of paracentric inversion of chromosome 8 in Moebius syndrome. Kersey, J.P., Vivian, A.J., Reid, E. Ophthalmic Genet. (2006) [Pubmed]
 
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