Spondyloperipheral dysplasia short ulna

Known as: Familial spondyloepiphyseal dysplasia, Spondyloperipheral Dysplasia With Short Ulna, Spondyloperipheral dysplasia 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1977-2013
0119772013

Papers overview

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2013
2013
Spondyloperipheral dysplasia (SPD; OMIM 271700) is an autosomal dominant connective tissue disorder characterized by vertebral… (More)
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2012
2012
We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare skeletal dysplasia… (More)
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2011
2011
It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In… (More)
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2007
2007
Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive… (More)
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2003
2003
Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar… (More)
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1995
1995
We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body… (More)
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