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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in the AXIN2 gene was identified in a 3-year-old female with multiple congenital anomalies (read full description).
Jul 26, 2021
Axis inhibitor 2
AXIN2 encodes a protein that stabilizes beta-catenin, which is involved in many important cell signaling and developmental pathways including proliferation and wound healing (Dong et al. 2001).
A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!