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

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Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.

We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome ( KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.[1]

References

  1. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. Bick, D.P., Schorderet, D.F., Price, P.A., Campbell, L., Huff, R.W., Shapiro, L.J., Moore, C.M. Prenat. Diagn. (1992) [Pubmed]
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