Spondyloepiphyseal dysplasia, congenita

Known as: SEDC, Spondyloepiphyseal dysplasia, congenital type, Spondyloepiphyseal dysplasia 
 
National Institutes of Health

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Topic mentions per year

1985-2017
0519852017

Papers overview

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2015
2015
Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature… (More)
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2014
2014
To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family with autosomal dominant spondyloepiphyseal… (More)
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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… (More)
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2008
2008
BACKGROUND Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short… (More)
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2004
2004
Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene… (More)
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2003
2003
OBJECTIVE Spondyloepiphyseal dysplasia congenita (SEDC) is a rare, inheritable condition that can include dwarfism, cleft palate… (More)
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2001
2001
Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC) are autosomal dominant forms of short-limb short… (More)
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1995
1995
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… (More)
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1993
1993
Retinal detachment is one of the most serious complications of spondyloepiphyseal dysplasia congenita (SEDC). The ocular… (More)
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1990
1990
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by… (More)
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