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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2002
Highly Cited
2002
Five patients with campomelic dysplasia who have survived (age range 7 to 20 years) are described, all of whom have molecular or… Expand
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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… Expand
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Highly Cited
1999
Highly Cited
1999
Campomelic dysplasia (CD), a skeletal malformation syndrome with or without XY sex reversal, is usually caused by mutations… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations in human SOX9 are associated with campomelic dysplasia (CD), characterised by skeletal malformation and XY sex… Expand
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Highly Cited
1996
Highly Cited
1996
Mutation analyses of patients with campomelic dysplasia, a bone dysmorphology and XY sex reversal syndrome, indicate that the SRY… Expand
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Highly Cited
1995
Highly Cited
1995
Mutations in the human SRY–related gene, SOX9, located on chromosome 17, have recently been associated with the sex reversal and… Expand
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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… Expand
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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… Expand
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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… Expand
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