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X-Linked Chondrodysplasia Punctata 1

Known as: Cdpx1, Arylsulfatase E Deficiency, Chondrodysplasia Punctata 1, X-Linked 
National Institutes of Health

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2009
2009
We report the case of an 8-day old newborn who suffers from chondrodysplasia punctata. It is a rare skeletal dysplasia which…