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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

Papers overview

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Highly Cited
2005
Highly Cited
2005
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 has been discovered, resulting in a mouse phenotype with similarities to human… Expand
2002
2002
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
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and… Expand
Highly Cited
1995
Highly Cited
1995
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
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… Expand
Highly Cited
1995
Highly Cited
1995
OBJECTIVE To define the clinical, pathological and molecular genetic characteristics of a family with mild spondyloepiphyseal… Expand
1995
1995
Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal… Expand
Highly Cited
1993
Highly Cited
1993
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
Analysis of retrospective growth data from 72 patients with diastrophic dysplasia, 62 patients with spondyloepiphyseal dysplasia… Expand