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Brachytelephalangic Chondrodysplasia Punctata

Known as: CDPX1, CPXR, Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 
National Institutes of Health

Related topics

Related topics

7 relations
ARSE, CYS492TYRCataractDevelopmental delay (disorder)X-Linked Chondrodysplasia Punctata 1

Broader (2)

Chondrodysplasia PunctataGenetic Diseases, X-Linked

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Warfarin-induced brachytelephalangic chondrodysplasia punctata
2007
2007
Cervical spine stenosis in chondrodysplasia punctata.
Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by stippled epiphyses during infancy. The frequency is… 
2007
2007
A Pair of Highly Conserved Two-Component Systems Participates in the Regulation of the Hypervariable FIR Proteins in Different Legionella Species
ABSTRACT Legionella pneumophila and other pathogenic Legionella species multiply inside protozoa and human macrophages by using… 
Review
1998
Review
1998
Brachytelephalangic chondrodysplasia punctata.
A case is reported here of a boy with brachytelephalangic chondrodysplasia punctata. This is the first case of this disorder… 
1998
1998
Treatment of PCB-contaminated soil in a pilot-scale continuous decomposition system.
1993
1993
Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.
This is a follow-up report on a male patient with a 46,Y,r(X) karyotype. Although he had no clinico-radiological features of X… 
Highly Cited
1962
Highly Cited
1962
Retinitis punctata albescens. A functional evaluation of an unusual case.
1958
1958
Spray Mechanism of the Cockroach Diploptera punctata.
Review
1951
Review
1951
Chondroangiopathia calcarea seu punctata; review and case report.
The prenatal recognition of developmental abnormalities is now a fundamental of diagnostic radiology. Within the past two years… 
1947
1947
A Case of Keratodermia Punctata
Keratodermia punctata is a very rare disease. The following case is a good example of it and fulfils the criteria for diagnosis… 
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