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Brachyolmia

 
National Institutes of Health

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Related topics

2 relations
Brachyolmia Type 3

Broader (1)

Osteochondrodysplasias

Papers overview

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2015
2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four… Expand
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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… Expand
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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… Expand
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2011
2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
BackgroundThe TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and… Expand
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Highly Cited
2010
Highly Cited
2010
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force.
Whether animal ion channels functioning as mechanosensors are directly activated by stretch force or indirectly by ligands… Expand
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Highly Cited
2008
Highly Cited
2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short… Expand
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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… Expand
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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… Expand
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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… Expand
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1973
1973
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).
Abstract The urinary mucopolysaccharides excreted by four siblings with generalized platyspondyly (brachyolmia) were analyzed by… Expand
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