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Achondrogenesis

Known as: Achondrogenesis Syndrome 
A rare group of disorders characterized by defective development of bones and cartilage.
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
OBJECTIVE In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency… Expand
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Highly Cited
2010
Highly Cited
2010
BACKGROUND Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into… Expand
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Review
2005
Review
2005
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… Expand
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2000
2000
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… Expand
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Highly Cited
1999
Highly Cited
1999
We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with… Expand
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Highly Cited
1998
Highly Cited
1998
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene constitute a family of recessively inherited… Expand
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1996
1996
Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate… Expand
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Highly Cited
1989
Highly Cited
1989
This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or… Expand
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Highly Cited
1986
Highly Cited
1986
This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the… Expand
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1971
1971
  • R M Saldino
  • The American journal of roentgenology, radium…
  • 1971
  • Corpus ID: 32544016
Achondrogenesis is a lethal skeletal dysplasia in which micromelia is severe and delay in ossification is extreme.The… Expand
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