Sunday, May 29, 2022

Tag: MSSE

Skin: The search for the TGFBR1 gene mutation

Nearly one year on from what I thought was the end of my skin journey, an unexpected confirmation was given. I do in fact have the TGFBR1 gene mutation.

Skin: Ferguson Smith Syndrome

Finally, my blood was sent for genetic testing to see if I have Ferguson Smith Syndrome. What were the results and where do I go from here?

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