MEDiscuss • Medical News • Sequencing a single genome yields cause of inherited bone disorder
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Sequencing a single genome yields cause of inherited bone disorder
Combining new, whole-genome sequencing technology with classic genetic approaches to understanding inherited diseases, Duke University Medical Center geneticists and colleagues at Johns Hopkins have discovered two gene mutations that cause metachondromatosis, a rare, heritable disorder that leads to bony growths, typically on hands and feet.
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