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Chondrodysplasia punctata, X-linked dominant type

Known as: X Linked Chondrodysplasia Punctata 2, Conradi Hünermann Syndrome, Chondrodysplasia Punctata 2, X-Linked 
 
National Institutes of Health

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Highly Cited
2009
Highly Cited
2009
Pathologies caused by mutations in extracellular matrix proteins are generally considered to result from the synthesis of… Expand
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Highly Cited
2005
Highly Cited
2005
Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure with significant… Expand
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2005
2005
Collagen X is a short chain collagen expressed specifically by the hypertrophic chondrocytes of the cartilage growth plate during… Expand
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Highly Cited
2003
Highly Cited
2003
Mutations resulting in a premature termination codon (PTC) are a major cause of inherited disorders, and the majority of these… Expand
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Review
2000
Review
2000
Chondrodysplasia punctata (CDP) is a heterogeneous group of skeletal dysplasias characterized by stippled epiphyses. A subtype of… Expand
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Highly Cited
1998
Highly Cited
1998
We report the absence of functional parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors (PTH/PTHrP receptor) in… Expand
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Highly Cited
1997
Highly Cited
1997
There are conflicting views on whether collagen X is a purely structural molecule, or regulates bone mineralization during… Expand
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Highly Cited
1997
Highly Cited
1997
Chondrodysplasia Grebe type (CGT) is an autosomal recessive disorder characterized by severe limb shortening and dysmorphogenesis… 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
A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related… Expand
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