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Spondyloepimetaphyseal dysplasia

 
National Institutes of Health

Papers overview

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2017
2017
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal… Expand
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2017
2017
In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel… Expand
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2013
2013
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed… Expand
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2007
2007
Skeletal dysplasias induced by mutations in the collagen 2 gene (the so‐called “type 2 collagenopathies”) form a wide spectrum in… Expand
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Review
2003
Review
2003
3'‐phosphoadenosine 5'‐phosphosulfate (PAPS) synthase (PAPSS) catalyzes the biosynthesis of PAPS which serves as the universal… Expand
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Highly Cited
1998
Highly Cited
1998
The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and… Expand
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1998
1998
Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was… Expand
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1998
1998
We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of… Expand
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Highly Cited
1995
Highly Cited
1995
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… Expand
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1990
1990
Spondyloepimetaphyseal dysplasia is a rare skeletal dysplasia frequently associated with severe spinal deformity. These… Expand
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