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Chondrodysplasia

Known as: chondrodysplasias 
National Institutes of Health

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Chondrodysplasia Punctata Syndrome
Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone DensityEnchondromatosisNivelon Nivelon Mabille syndromechondrodystrophy

Papers overview

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Review
2014
Review
2014
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia
Chondrodysplasias are a group of genetic disorders that affect the development and growth of cartilage. These disorders can… 
2008
2008
SNPS in the Promoter Regions of the Canine RMRP and SHOX Genes are not Associated with Canine Chondrodysplasia
Canine chondrodysplasia is a heritable defect of endochondral ossification characterized by disproportionately short limbs. It is… 
1998
1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Kniest dysplasia, a human chondrodysplasia that severely affects skeletal growth, is caused by mutations in the type II collagen… 
1998
1998
Editorial: Parathyroid Hormone (PTH)/PTHrP Receptor Mutations in Human Chondrodysplasia.
A recurring theme in biomedical research is the frequency and degree to which biological principles are illuminated by human… 
1996
1996
Craniofacial anthropometric analysis in several types of chondrodysplasia.
  • A. Hunter
  • American journal of medical genetics
  • 1996
  • Corpus ID: 8167936
Craniofacial anthropometric analysis is a generally accessible technique that potentially offers an objective tool to reduce the… 
1989
1989
Type II collagen screening in the human chondrodysplasias.
Abnormalities of type II collagen have been considered strong candidates for causing human condrodysplasias. We have employed… 
1986
1986
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
We describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal… 
1984
1984
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.
Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by… 
Highly Cited
1972
Highly Cited
1972
Studies on cartilage. VI. A genetically determined defect in tracheal cartilage.
1942
1942
HEREDITARY DEFORMING CHONDRODYSPLASIA
Hereditary deforming chondrodysplasia 1 is a distinct clinical entity, easily recognized and presenting an unmistakable clinical… 
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