Bone Diseases, Developmental

Known as: BONE DEVELOPMENT DISORDER, Bone Diseases, Developmental [Disease/Finding], Dysplasias, Bone 
Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.
National Institutes of Health

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ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPEAcrocapitofemoral DysplasiaAcromicric DysplasiaAngel shaped phalangoepiphyseal dysplasia
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Papers overview

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Review
2013
Review
2013
New genes in bone development: what's new in osteogenesis imperfecta.
Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility and deformity and growth deficiency… (More)
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Highly Cited
2010
Highly Cited
2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date… (More)
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Highly Cited
2009
Highly Cited
2009
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae… (More)
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Highly Cited
2008
Highly Cited
2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of… (More)
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Highly Cited
2005
Highly Cited
2005
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.
Mutations in distant regulatory elements can have a negative impact on human development and health, yet because of the… (More)
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Highly Cited
2005
Highly Cited
2005
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal-recessive disorder caused by a deficiency of lysosomal N… (More)
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Highly Cited
2001
Highly Cited
2001
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is… (More)
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Highly Cited
1996
Highly Cited
1996
Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth
Endochondral ossification is a major mode of bone that occurs as chondrocytes undergo proliferation, hypertrophy, cell death, and… (More)
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1996
1996
Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome.
McCune-Albright syndrome (MAS) is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous… (More)
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Review
1994
Review
1994
The type II collagenopathies: A spectrum of chondrodysplasias
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… (More)
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