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Pseudoachondroplasia

Known as: PSEUDOACHONDROPLASTIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC, PSACH 
A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs… 
National Institutes of Health

Related topics

Related topics

11 relations

Broader (1)

Achondroplasia
Atlantoaxial dislocationAutosomal dominant inheritanceBrachydactylyJoint laxity

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Cartilage oligomeric matrix protein and its binding partners in the cartilage extracellular matrix: interaction, regulation and role in chondrogenesis.
Highly Cited
2009
Highly Cited
2009
Enumeration of the colony-forming units-fibroblast from mouse and human bone marrow in normal and pathological conditions.
Highly Cited
2005
Highly Cited
2005
COMP mutations, chondrocyte function and cartilage matrix.
Highly Cited
2003
Highly Cited
2003
Effect of cartilage oligomeric matrix protein on mesenchymal chondrogenesis in vitro.
Highly Cited
2003
Highly Cited
2003
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis.
2002
2002
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.
Pseudoachondroplasia is a dominantly inherited chondrodysplasia associated with mutations in cartilage oligomeric matrix protein… 
Review
1997
Review
1997
Structural and functional aspects of calcium binding in extracellular matrix proteins.
Review
1996
Review
1996
Extracellular calcium-binding proteins.
Highly Cited
1996
Highly Cited
1996
Natural history study of pseudoachondroplasia.
Pseudoachondroplasia (PSACH) is a well-characterized autosomal dominant dwarfing condition. A great deal of information is… 
Highly Cited
1970
Highly Cited
1970
Orthopaedic aspects of achondroplasia.
Achondroplasia is a specific entity and is no longer considered to be synonymous with short-limb dwarfism. Achondroplastic dwarfs… 
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