Genetics e Rare diseases

Clinical picture of new forms of brittle bone disease

A mutation in a gene that supervises the proper formation of collagen in the cell causes a lethal form of osteogenesis imperfecta, or brittle bone disease, when the infant inherits two faulty genes – one from each parent, according to researchers – including those from Baylor College of Medicine – in a report in the current issue of The New England Journal of Medicine.
Read more

 http://www.bcm.edu/news/item.cfm?newsID=782&r=1...

Baylor College of Medicine