Article
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization.
Proceedings of the National Academy of Sciences of the United States of America - 5 Jun 2001
Bi W, Huang W, Whitworth D J, Deng J M, Zhang Z, Behringer R R, de Crombrugghe B
Abstract excerpt
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia. Except for clinical descriptions, little is known about the pathogenesis of this disease. We have generated heterozygous Sox9 mutant mice that phenocopy most of the skeletal abnormalities of this syndrome. The Sox9(+/-) mice died perinatally with cleft palate, as well as hypoplasia and bending of many...
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