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

Topic mentions per year

Topic mentions per year

1968-2018
051019682018

Papers overview

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2004
2004
X-linked spondyloepiphyseal dysplasia tarda is a skeletal dysplasia mainly affecting the vertebrae and epiphyses and commonly… (More)
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2003
2003
UNLABELLED A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to… (More)
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1995
1995
Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal… (More)
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1995
1995
OBJECTIVE To present a case of spondyloepiphyseal dysplasia (SED) tarda in a 14-yr-old boy. CLINICAL FEATURES The patient… (More)
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1993
1993
A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes… (More)
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1989
1989
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of inherited disorders characterized by disproportionate short… (More)
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Highly Cited
1986
Highly Cited
1986
More than 90% of patients with so-called primary or idiopathic osteoarthritis of the hips in whom sufficient data were available… (More)
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1983
1983
Two sisters and one brother, all with normal intelligence and no evidence of neurological abnormality, present progressive… (More)
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1976
1976
A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of… (More)
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1971
1971
The syndrome of short stature inherited as an X-linked recessive trait was first reported by Jacobsen (1939) who described one… (More)
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