Wednesday, March 16, 2016

First scientific publication released today on the RPS23 mutation.


Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy


http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0149619

In this study the physical properties of Vincent's hair are analyzed in comparison to the rest of our family.

More papers will follow.

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