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X-Linked Chondrodysplasia Punctata 1

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

Related topics

Related topics

3 relations
Brachytelephalangic Chondrodysplasia Punctata

Broader (2)

Chondrodysplasia PunctataGenetic Diseases, X-Linked

Papers overview

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2016
2016
Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene… 
2013
2013
Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.
X-linked recessive chondrodysplasia punctata (CDPX1) is a rare congenital disorder of bone and cartilage development… 
2009
2009
Condrodisplasia punctata: a propósito de un caso neonatal
We report the case of an 8-day old newborn who suffers from chondrodysplasia punctata. It is a rare skeletal dysplasia which… 
1995
1995
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).
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