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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… Expand
National Institutes of Health

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Highly Cited
2006
Highly Cited
2006
Background:The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts… Expand
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Highly Cited
2003
Highly Cited
2003
Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain… Expand
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Highly Cited
2002
Highly Cited
2002
PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome… Expand
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Highly Cited
1999
Highly Cited
1999
Tattered (Td) is an X-linked, semi-dominant mouse mutation associated with prenatal male lethality. Heterozygous females are… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately… Expand
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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… Expand
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Highly Cited
1995
Highly Cited
1995
X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by… Expand
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Highly Cited
1988
Highly Cited
1988
Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic… Expand
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Highly Cited
1967
Highly Cited
1967
Abstract The occurrence of a bizarre familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI… Expand
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