CAMPOMELIC DYSPLASIA

Known as: Campomelic Dwarfism, Campomelic Syndromes, Dysplasias, Campomelic 
A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the… (More)
National Institutes of Health

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2009
2009
Campomelic dysplasia (CD) is a rare autosomal dominant osteochondrodysplasia with or without XY disorders of sexual development… (More)
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Highly Cited
2005
Highly Cited
2005
Campomelic dysplasia (CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal. In addition to the… (More)
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Highly Cited
2003
Highly Cited
2003
Campomelic dysplasia (CD) is a semilethal osteochondrodysplasia, characterized by skeletal anomalies that include bending of the… (More)
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Highly Cited
1999
Highly Cited
1999
Chondrogenesis results in the formation of cartilages, initial skeletal elements that can serve as templates for endochondral… (More)
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Highly Cited
1998
Highly Cited
1998
Campomelic dysplasia (CD) is a rare, neonatal human chondrodysplasia characterized by bowing of the long bones and often… (More)
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Highly Cited
1997
Highly Cited
1997
The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal… (More)
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Highly Cited
1995
Highly Cited
1995
Campomelic dysplasia (CMD) is a rare skeletal disorder that is usually lethal. It is characterised by bowing of the lower limbs… (More)
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1995
Highly Cited
1995
Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening… (More)
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Highly Cited
1994
Highly Cited
1994
Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by… (More)
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Highly Cited
1994
Highly Cited
1994
A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1… (More)
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