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… (More)
National Institutes of Health

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2003
2003
Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain… (More)
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1998
1998
Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of… (More)
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Highly Cited
1997
Highly Cited
1997
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive phenotype that comprises complementation group 11 of… (More)
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Highly Cited
1997
Highly Cited
1997
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately… (More)
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1997
1997
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific stippling of the hyaline… (More)
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1994
1994
Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia… (More)
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1992
1992
Peroxisomes were studied in the liver of two rhizomelic chondrodysplasia punctata patients using electron microscopy and catalase… (More)
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1992
1992
Dissection and serial section-reconstruction preparations from vertebrae with coronal cleft of a 2 5/12-year-old girl with… (More)
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1988
1988
Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic… (More)
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1987
1987
The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and… (More)
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