X-linked dominant chondrodysplasia punct
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Wilson, Callum J.; Aftimos, Salim
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Article
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1998
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John Wiley and Sons
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English
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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 t