Skip to search formSkip to main contentSkip to account menu

Spondyloepiphyseal dysplasia, congenita

Known as: SED CONGENITA, SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE, SEDC 
National Institutes of Health

Related topics

Related topics

28 relations
Autosomal dominant inheritanceCOL2A1 wt AlleleCervical myelopathyCleft Palate

Broader (3)

Bone Diseases, DevelopmentalOsteochondrodysplasiasSpondyloepiphyseal Dysplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Quantification of finite-temperature effects on adsorption geometries of π-conjugated molecules: Azobenzene/Ag(111)
The adsorption structure of the molecular switch azobenzene on Ag(111) is investigated by a combination of normal incidence x-ray… 
Highly Cited
2011
Highly Cited
2011
Mitigation of Multimodal SSR Using SEDC in the Shangdu Series-Compensated Power System
The Shangdu power plant has four 600-MW turbine-generators connected to the North-China Grid through two 500-kV transmissions… 
Highly Cited
2006
Highly Cited
2006
Sedolisins, a New Class of Secreted Proteases from Aspergillus fumigatus with Endoprotease or Tripeptidyl-Peptidase Activity at Acidic pHs
ABSTRACT The secreted proteolytic activity of Aspergillus fumigatus is of potential importance as a virulence factor and in the… 
2004
2004
Spondyloepiphyseal dysplasia congenita with absent femoral head.
Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene… 
2001
2001
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC) are autosomal dominant forms of short-limb short… 
Review
1998
Review
1998
Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita
Abstract Spondyloepiphyseal dysplasia congenita (SEDC) can be accompanied by hypoplasia of the odontoid and/or lax ligaments… 
1995
1995
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… 
Highly Cited
1990
Highly Cited
1990
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by… 
1982
1982
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita.
Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism… 
1982
1982
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita?
Two unrelated infants seen for evaluation of short stature at 14 and 27 months, respectively, had clinical and radiographic… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)