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X-Linked Chondrodysplasia Punctata 1
Known as:
Cdpx1
, Arylsulfatase E Deficiency
, Chondrodysplasia Punctata 1, X-Linked
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National Institutes of Health
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Related topics
Related topics
3 relations
Brachytelephalangic Chondrodysplasia Punctata
Broader (2)
Chondrodysplasia Punctata
Genetic 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
Jin Woong Doo
,
Ja-Hyun Jang
,
Eun-Hae Cho
,
Jin Kyu Kim
,
S. Cho
2016
Corpus ID: 30715182
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene…
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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.
G. Jeon
,
Min-Jung Kwon
,
S. Lee
,
J. Sin
,
C. Ki
Annals of Clinical and Laboratory Science
2013
Corpus ID: 10741287
X-linked recessive chondrodysplasia punctata (CDPX1) is a rare congenital disorder of bone and cartilage development…
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2009
2009
Condrodisplasia punctata: a propósito de un caso neonatal
Jesús Dante Guerra-Leal
,
J. B. Gutiérrez-Sánchez
,
Alberto Montemayor-Martínez
,
Luis M de Alba-Padilla
,
María Georgina Arteaga-Alcaraz
2009
Corpus ID: 74777344
We report the case of an 8-day old newborn who suffers from chondrodysplasia punctata. It is a rare skeletal dysplasia which…
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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).
I. Wang
,
Brunella Franco
,
+9 authors
Christine Petit
Genomics
1995
Corpus ID: 19546269
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