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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

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Broader (1)

Achondroplasia
Atlantoaxial dislocationAutosomal dominant inheritanceBrachydactylyJoint laxity

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
2011
2011
Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGFβ-responsive gene.
Review
2009
Review
2009
Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification.
The mutual interaction of the two supramolecular compartments, the fibrillar and extrafibrillar matrix is a prerequisite for… 
2007
2007
Upper Cervical Spine Instability in Pseudoachondroplasia
Background: Pseudoachondroplasia (PSACH) is a rare autosomal dominant skeletal dysplasia associated with os odontoideum and… 
2001
2001
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
Pseudoachondroplasia (PSACH) is a common skeletal dysplasia characterized by disproportionate short stature, early-onset… 
1994
1994
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia… 
Highly Cited
1991
Highly Cited
1991
Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development.
1986
1986
An asymmetric type of chondrodysplasia in an adult male
In this paper we report a 22‐year‐old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the… 
1976
1976
Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.
Metatropic dwarfism, the Kniest syndrome, and pseudoachondroplastic dysplasia are specific chondrodystrophic disorders that have… 
1976
1976
Pseudoachondroplastic dysplasia (Maroteaux-Lamy): a critical analysis.
SUMMARY The author has critically analysed the literature on various conditions which have, in common: 1. genetic basis, 2… 
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