The gene for SRPS (short rib polydactyly syndrome) has been found! This is the lethal diagnosis Erin and I received for Evan. All though we ended up not having this condition it is a very happy day as we are friends with numerous families that have been effected. Knowing the gene will help in numerous ways. However, they think multiple gene's cause SRPS so the hunt continues. Fantastic progress though.
Read more here:
http://newsroom.ucla.edu/portal/ucla/ucla-scientists-identify-gene-86795.aspx
Eric
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I am really happy about this. No more misdiagnosis of SRPS! You and Erin wouldn't have had to go through this if this had been available 6 months ago. What a difference a few months, and some published research makes!
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