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Dysostoses

Known as: Dysostoses [Disease/Finding], Dysostosis 
Defective bone formation involving individual bones, singly or in combination.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Mutations in Notch signaling pathway members cause developmental phenotypes that affect the liver, skeleton, heart, eye, face… Expand
Review
2011
Review
2011
One of the most striking features of the human vertebral column is its periodic organization along the anterior-posterior axis… Expand
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Highly Cited
2005
Highly Cited
2005
Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal… Expand
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Review
2003
Review
2003
  • T. Gridley
  • Human molecular genetics
  • 2003
  • Corpus ID: 6292164
The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic… Expand
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Highly Cited
2000
Highly Cited
2000
Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral malsegmentation syndromes with reduced stature resulting from… Expand
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Highly Cited
2000
Highly Cited
2000
Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short… Expand
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Review
1988
Review
1988
Environmental agents including ethanol, 13-cis retinoic acid (RA, Accutane), the antimetabolite methotrexate, periods of hypoxia… Expand
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Highly Cited
1973
Highly Cited
1973
Clinical, radiologic, and biochemical studies are presented of a patient with a previously undescribed mucopolysaccharide storage… Expand