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

Papers overview

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Review
2013
Review
2013
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
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
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
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
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
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
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
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
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
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… (More)
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