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

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X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review the literature and propose that X-linked dominant chondrodysplasia punctata is a peroxisomal disorder and that its phenotype can be explained by X chromosome lyonisation and the relative proliferation of cells expressing the normal X allele.[1]

References

  1. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? Wilson, C.J., Aftimos, S. Am. J. Med. Genet. (1998) [Pubmed]
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