Skip to search formSkip to main contentSkip to account menu

Chondrodysplasia Punctata, Rhizomelic

Known as: Chondrodysplasia Punctatas, Rhizomelic, Rhizomelic Chondrodysplasia Punctatas, CDPR 
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have… 
National Institutes of Health

Related topics

Related topics

11 relations
Hereditary Connective Tissue DisorderIn BloodMicrobiologicalRhizomelia

Narrower (3)

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1Rhizomelic chondrodysplasia punctata, type 2Rhizomelic chondrodysplasia punctata, type 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Peroxisome biogenesis disorders
Catherine Argyrioua,∗, Maria Daniela D’Agostinob and Nancy Bravermanc aMcGill University Department of Human Genetics, Montreal… 
Review
2006
Review
2006
Peroxisome biogenesis disorders.
Review
2006
Review
2006
The ether lipid-deficient mouse: tracking down plasmalogen functions.
Highly Cited
2006
Highly Cited
2006
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
Background: The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts… 
Review
2000
Review
2000
Peroxisome biogenesis disorders: genetics and cell biology.
Highly Cited
1999
Highly Cited
1999
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
The metabolic pathways that produce 11-cis retinal are important for vision because this retinoid is the chromophore residing in… 
Review
1999
Review
1999
Receptors for PTH and PTHrP: their biological importance and functional properties.
The type 1 receptor (PTH1R) for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) is a G protein-coupled… 
Highly Cited
1999
Highly Cited
1999
Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
Tattered (Td) is an X-linked, semi-dominant mouse mutation associated with prenatal male lethality. Heterozygous females are… 
Highly Cited
1997
Highly Cited
1997
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately… 
Highly Cited
1996
Highly Cited
1996
A human chondrodysplasia due to a mutation in a TGF-β superfamily member
The TGF-β superfamily comprises a number of functionally diverse growth factors/signalling molecules1 which elicit their response… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)