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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

Papers overview

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Review
2012
Review
2012
Plasmalogens are a unique class of membrane glycerophospholipids containing a fatty alcohol with a vinyl-ether bond at the sn-1… Expand
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Review
2004
Review
2004
  • R. Happle
  • Human Genetics
  • 2004
  • Corpus ID: 25515142
SummaryX-linked dominant chondrodysplasia punctata is a syndrome consisting of skeletal, ocular, and cutaneous anomalies with… Expand
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Review
2000
Review
2000
We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an… Expand
Highly Cited
1999
Highly Cited
1999
X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate… Expand
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
Chondrodysplasia Grebe type (CGT) is an autosomal recessive disorder characterized by severe limb shortening and dysmorphogenesis… Expand
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
The rhizomelic form of chondrodysplasia punctata (RCDP) is an autosomal recessive disease of peroxisome biogenesis characterized… Expand
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
Highly Cited
1993
Highly Cited
1993
The expression of type X collagen is restricted to hypertrophic chondrocytes in regions undergoing endochondral ossification… Expand