News tagged with genetic defects

All genes in one go

The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite ...

dateAug 29, 2010 in Genetics
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Missed diagnosis: 22q11.2 deletion syndrome

(PhysOrg.com) -- An article published in the June issue of the journal Nature Reviews: Neuroscience provides one of the first comprehensive overviews of the genetic, neural and cognitive bases of a frequently undiagnosed ...

dateJul 01, 2010 in Neuroscience
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Chromosomal abnormality found for inherited clubfoot

Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most ...

dateJul 01, 2010 in Genetics
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