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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.
Highly Cited
2005
Highly Cited
2005
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and… Expand
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… Expand
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… Expand
Review
1999
Review
1999
Clinical and molecular genetics of Stickler syndrome
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and… Expand
Highly Cited
1995
Highly Cited
1995
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are… Expand
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Highly Cited
1995
Highly Cited
1995
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… Expand
Highly Cited
1995
Highly Cited
1995
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
OBJECTIVE To define the clinical, pathological and molecular genetic characteristics of a family with mild spondyloepiphyseal… Expand
1995
1995
Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia.
Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal… Expand
Highly Cited
1993
Highly Cited
1993
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes… Expand
Highly Cited
1982
Highly Cited
1982
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia.
Analysis of retrospective growth data from 72 patients with diastrophic dysplasia, 62 patients with spondyloepiphyseal dysplasia… Expand
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