Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Spondyloepiphyseal dysplasia, congenita

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular… Expand
Highly Cited
2006
Highly Cited
2006
ABSTRACT The secreted proteolytic activity of Aspergillus fumigatus is of potential importance as a virulence factor and in the… Expand
  • table 1
  • table 2
  • figure 1
  • table 3
  • figure 2
Review
2004
Review
2004
Study Design. A retrospective review of 21 patients with spondyloepiphyseal dysplasia congenita (SEDC), including 7 operated… Expand
2001
2001
Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC) are autosomal dominant forms of short-limb short… Expand
1995
1995
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… Expand
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
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
1990
Highly Cited
1990
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by… Expand
Highly Cited
1982
Highly Cited
1982
Analysis of retrospective growth data from 72 patients with diastrophic dysplasia, 62 patients with spondyloepiphyseal dysplasia… Expand
Highly Cited
1970
Highly Cited
1970
  • W. Peart
  • Proceedings of the Royal Society of Medicine
  • 1970
  • Corpus ID: 2614029
  • figure 3
  • figure 4
  • figure 5
  • figure 3
  • table 4