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Genetic mutation explains form of brittle bone disease
10-19-2006 · EurekAlert!A newly identified gene mutation helps explain a subset of cases of osteogenesis imperfecta, or brittle bone disease, whose origin had until now remained mysterious. Identifying the new mutation is important because children with the disorder, whose bones break easily, are sometimes mistaken as victims of child abuse -- particularly those who do not carry the genetic mutation known to cause most cases of brittle bone disease.
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- Second gene discovered for recessive form of brittle bone disease
02-08-2007 · EurekAlert!
Researchers at the National Institutes of Health and other institutions have found a second genetic defect that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a disorder that weakens bones, sometimes results in frequent fractures and is sometimes fatal.
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10-19-2006 · EurekAlert!
A team of researchers has identified a new genetic mutation responsible for osteogenesis imperfecta (OI), a condition that makes bones much more likely to break, according to a study published today in the journal Cell. Victims may experience just a few fractures in a lifetime or several hundred beginning before birth. The number of Americans affected is unknown, but estimates range from 20,000 to 50,000.
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12-27-2006 · EurekAlert!
Researchers at the National Institutes of Health have discovered that a previously unexplained fatal form of Osteogenesis Imperfecta -- a disorder that weakens bones and which may cause frequent fractures -- results from a genetic defect in a protein involved in the production of collagen.
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