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Brachyolmia

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1983-2016
012319832016

Related topics

Related topics

2 relations
Brachyolmia Type 3

Broader (1)

Osteochondrodysplasias

Related mentions per year

Related mentions per year

1955-2018
1960198020002020
Brachyolmia
Osteochondrodysplasias
Brachyolmia Type 3

Papers overview

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2013
2013
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long-bone… (More)
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2012
2012
PAPSS2 mutations cause autosomal recessive brachyolmia.
BACKGROUND Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic… (More)
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2003
2003
Brachyolmia and spinal stenosis.
Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant… (More)
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2003
2003
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with… (More)
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2000
2000
Familial brachyolmia.
Brachyolmia is characterized clinically by short stature and radiographically by generalized platyspondyly without significant… (More)
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1997
1997
A case of brachyolmia.
Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal… (More)
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1995
1995
Brachyolmia: a report of two cases.
Brachyolmia is a rare form of skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal… (More)
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1994
1994
Brachyolmia: an autosomal dominant form.
We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis… (More)
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1991
1991
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.
A 15-year-old girl is described with brachyolmia. She presented with short-trunked dwarfism, hypolordosis of the lower spine and… (More)
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1983
1983
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.
Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during… (More)
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