December 13, 2012

When There's a Leg Where Your Arm Should Be

Ricki Lewis, PLoS Blogs

AP Photo

Flipping the X-ray showed Stefan Mundlos, MD, that his hunch was right – the patient’s arms were peculiar and stiff because the elbows were actually knees.

The recent report from Dr. Mundlos’ group at the Max Planck Institute for Molecular Genetics, complete with a genetic explanation for the condition, flew under the radar of  the press-release-driven science news aggregators.

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TAGGED: Rare Diseases, Knees, Mutation, Homeobox