X-Linked Chondrodysplasia Punctata 1

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

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2016
2016
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene… (More)
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2015
2015
X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical… (More)
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2013
2013
X-linked recessive chondrodysplasia punctata (CDPX1) is a rare congenital disorder of bone and cartilage development… (More)
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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… (More)
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2008
2008
X-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), located on Xp22.3. Neither the… (More)
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2002
2002
X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder… (More)
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1995
1995
The study of patients with chromosomal rearrangements has led to the mapping of the gene responsible for X-linked recessive… (More)
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