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X-Linked Chondrodysplasia Punctata 1

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

Papers overview

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2016
2016
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene… 
2013
2013
X-linked recessive chondrodysplasia punctata (CDPX1) is a rare congenital disorder of bone and cartilage development… 
2009
2009
We report the case of an 8-day old newborn who suffers from chondrodysplasia punctata. It is a rare skeletal dysplasia which…