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Osteochondrodysplasias

Known as: Congenital Skeletal Dysplasia, Skeletal dysplasia, Osteochondrodysplasia 
A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
National Institutes of Health

Papers overview

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Highly Cited
2001
Highly Cited
2001
Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several types of human skeletal dysplasia, including… 
Highly Cited
2001
Highly Cited
2001
4p16.3 has previously been identified as a region of non-random LOH in transitional cell carcinoma, suggesting the presence of a… 
Review
2000
Review
2000
PURPOSE To compare the prenatal ultrasonographic (US) features of skeletal dysplasia by using two-dimensional (2D) and three… 
Highly Cited
1999
Highly Cited
1999
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with… 
Review
1998
Review
1998
We reviewed the results of distraction osteogenesis of 114 femora and 147 tibiae that had been lengthened to treat a variety of… 
Highly Cited
1998
Highly Cited
1996
Highly Cited
1996
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly…