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