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

Semantic Scholar uses AI to extract papers important to this topic.
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… (More)
  • figure 1
  • table 1
  • figure 2
Is this relevant?
2015
2015
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical… (More)
  • figure 1
  • table 1
Is this relevant?
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… (More)
Is this relevant?
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… (More)
Is this relevant?
2008
2008
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
X-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), located on Xp22.3. Neither the… (More)
Is this relevant?
2002
2002
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder… (More)
Is this relevant?
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).
The study of patients with chromosomal rearrangements has led to the mapping of the gene responsible for X-linked recessive… (More)
Is this relevant?