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Spondyloepiphyseal dysplasia, congenita

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

Papers overview

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2015
2015
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular… Expand
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2012
2012
Progeny of mice treated with the mutagen N-ethyl-N-nitrosourea (ENU) revealed a mouse, designated Longpockets (Lpk), with short… Expand
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2011
2011
The Shangdu power plant has four 600-MW turbine-generators connected to the North-China Grid through two 500-kV transmissions… Expand
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2006
2006
The secreted proteolytic activity of Aspergillus fumigatus is of potential importance as a virulence factor and in the industrial… Expand
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2004
2004
Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene… Expand
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2001
2001
Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC) are autosomal dominant forms of short-limb short… Expand
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1995
1995
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… Expand
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1995
1995
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… Expand
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1990
1990
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by… Expand
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1982
1982
Analysis of retrospective growth data from 72 patients with diastrophic dysplasia, 62 patients with spondyloepiphyseal dysplasia… Expand
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