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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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
The golgins are a family of predominantly coiled-coil proteins that are localized to the Golgi apparatus. Golgins are present in… 
Highly Cited
2015
Highly Cited
2015
In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm… 
Highly Cited
2009
Highly Cited
2009
To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis… 
Highly Cited
2003
Highly Cited
2003
Recognition of prenatal‐onset skeletal dysplasias has improved with advances in ultrasound imaging. Skeletal abnormalities can be… 
Highly Cited
1996
Highly Cited
1996
Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate… 
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… 
Highly Cited
1986
Highly Cited
1986
A lethal short-limbed dwarfism was diagnosed at autopsy as the Langer-Saldino variant of achondrogenesis by radiological… 
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… 
Highly Cited
1971
Highly Cited
1971
  • R. 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… 
Highly Cited
1970
Highly Cited
1970
  • W. Peart
  • Proceedings of the Royal Society of Medicine
  • 1970
  • Corpus ID: 2614029