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

Topic mentions per year

Topic mentions per year

1971-2014
02419712014

Papers overview

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2014
2014
Mutations in the Emopamil-binding protein (EBP) gene cause X-linked dominant chondrodysplasia punctata 2 (CDPX2), a disorder in… (More)
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2010
2010
Mutations of the gene coding for emopamil binding protein (EBP) can lead to deficient activity of 3-β-hydroxysteroid Δ(8), Δ(7… (More)
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2006
2006
OBJECTIVE To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight… (More)
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2004
2004
Chondrodysplasia punctata is a rare familial disorder characterized by punctate calcifications in the epiphyseal regions. The… (More)
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2003
2003
X-linked dominant chondrodysplasia punctata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display… (More)
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2000
2000
CHILD (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with… (More)
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1999
1999
We report a Japanese girl with the Conradi-Hünermann form of chondrodysplasia punctata and anterior segment malformations… (More)
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1989
1989
Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome… (More)
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1987
1987
Chondrodysplasia punctata is a rare familial disorder characterized by punctate calcifications in the epiphyseal regions. The… (More)
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1976
1976
Nineteen cases of chondrodysplastic short-limbed dwarfism in early infancy were studied in the context of current clinical… (More)
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