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Spondyloepiphyseal Dysplasia

Known as: Dysplasia, Spondyloepiphyseal, Spondyloepiphyseal dysplasia tarda, spondyloepiphyseal dysplasias 
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [HPO:probinson]
National Institutes of Health

Related topics

Related topics

3 relations

Broader (2)

OsteochondrodysplasiasSpondyloepiphyseal Dysplasia Tarda, X-Linked

Narrower (1)

Spondyloepiphyseal dysplasia, congenita

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis
We investigated the effects of the presence of R75C (p.R275C), R519C (p.719C), R789C (p.R989C), and G853E (p.G1053E) type II… 
Review
2006
Review
2006
Retrospective Study of Cervical Arthrodesis in Patients With Various Types of Skeletal Dysplasia
Study Design. Retrospective prognostic study. Objective. To evaluate the safety and efficacy of cervical arthrodesis for cervical… 
2005
2005
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia
We describe two unrelated children with Kniest dysplasia, a severe autosomal dominant form of chondrodysplastic dwarfism… 
2005
2005
Clinical and radiological diagnosis of progressive pseudorheumatoid dysplasia in two sisters with severe polyarthropathy
The aim of this case report is to describe unusual cases of progressive pseudorheumatoid dysplasia (PPD) affecting the axial… 
Highly Cited
2003
Highly Cited
2003
A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis
A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human… 
2002
2002
Y‐Position Collagen II Mutation Disrupts Cartilage Formation and Skeletal Development in a Transgenic Mouse Model of Spondyloepiphyseal Dysplasia
Mice were generated by pronuclear injection of a type II collagen transgene harboring an Arg789Cys (R789C) mutation that has been… 
1993
1993
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.
Previous linkage studies in X-linked spondyloepiphyseal dysplasia (SEDL) placed the gene in the region Xp22.2-p22.1 by linkage to… 
1990
1990
Spondyloepiphyseal dysplasia of Maroteaux.
The cases of four patients who had an unusual clinical entity of disproportionately short stature, referred to as… 
Review
1985
Review
1985
Laryngotracheal stenosis in spondyloepiphyseal dysplasia
Laryngotracheal stenosis has not been reported previously as a manifestation of spondylocpiphyseal dysplasiu. Two recent cases… 
1978
1978
Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.
Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were… 
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