Chondrodysplasia Punctata

Known as: Chondrodysplasia Punctata (Stippled Epiphyses) Group, Chondrodysplasia Punctata [Disease/Finding], Chondrodystrophia Calcificans Congenita 
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1963-2017
010203019632017

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2002
2002
PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome… (More)
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2001
2001
Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disorder leading to multiple developmental malformations… (More)
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1999
1999
The term, "chondrodysplasia punctata" (CDP) denotes a pattern of abnormal punctate calcification of dystrophic epiphyseal… (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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Highly Cited
1997
Highly Cited
1997
The rhizomelic form of chondrodysplasia punctata (RCDP) is an autosomal recessive disease of peroxisome biogenesis characterized… (More)
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1995
1995
X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by… (More)
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1989
1989
The author describes four cases of chondrodysplasia punctata with an hypoplasia of the distal phalange of the fingers. In these… (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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1976
1976
A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients… (More)
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