Skeletal Dysplasias

Researchers discover new bone deformity gene

(Medical Xpress) -- The Human Genetics team at The University of Queensland Diamantina Institute have successfully used a new gene-mapping approach for patients affected by severe skeletal abnormalities.

May 04, 2011
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Double-teaming a whole-genome hunt

By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation ...

Jul 12, 2010
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Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro").

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