Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Here is my presentation describing the computational aspect of our paper recently published in Nature Genetics. This papers shows how truncating mutations in the NOTCH2 protein are the main cause of the Hadju-Cheney syndrome.

Isidor, Bertrand & al. (2011).
"Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis"
Nature Genetics doi:10.1038/ng.778

NOTCH2 backstage

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That's it,

Pierre