Abnormality of the skeletal system

We studied a mouse model of the haploinsufficiency form of Rubinstein-Taybi syndrome (RTS), an inheritable disorder caused by… Expand

We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their… Expand

The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal… Expand

Mutations in human SOX9 are associated with campomelic dysplasia (CD), characterised by skeletal malformation and XY sex… Expand

In nucleotide excision repair DNA damage is removed through incision of the damaged strand on both sides of the lesion, followed… Expand

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and… Expand

Much of our knowledge about cartilage and bone has come from descriptive anatomy, endocrinology, and cellular studies of bone… Expand

Numerous congenital malformations have been observed in fetuses of vitamin A-deficient (VAD) dams [Wilson, J. G., Roth, C. B… Expand

(1) Fluctuating asymmetry (FA) is a useful trait for monitoring stress in the laboratory and in natural environments. 

The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia… Expand