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… (More)

Topic mentions per year

Topic mentions per year

1972-2017
051019722017

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2003
2003
Pseudoachondroplasia (PSACH) is a skeletal dysplasia caused by a mutation in cartilage oligomeric matrix protein (COMP), a… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
2002
2002
Pseudoachondroplasia is a dominantly inherited chondrodysplasia associated with mutations in cartilage oligomeric matrix protein… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Mutations in type 3 repeats of cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia… (More)
Is this relevant?
2001
2001
Mutations in the cartilage oligomeric matrix protein (COMP) gene result in pseudoachondroplasia (PSACH), which is a… (More)
Is this relevant?
1998
1998
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in… (More)
Is this relevant?
1998
1998
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are common skeletal dysplasias with impaired enchondral… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 4
  • figure 3
Is this relevant?
1996
1996
Pseudoachondroplasia (PSACH) is a well-characterized autosomal dominant dwarfing condition. A great deal of information is… (More)
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by… (More)
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Pseudoachondroplasia (PSACH) is a well characterized dwarfing condition mapping to chromosome 19p12–13.1. Cartilage oligomeric… (More)
Is this relevant?
1982
1982
Histochemical, immunohistochemical, electron microscopical and microchemical studies were performed on growth cartilage biopsies… (More)
  • figure 1
  • figure 3
Is this relevant?