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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 TELO2 gene was identified in a male who passed away at age 2 with symptoms characteristic of You-Hoover-Fong syndrome (read full description).
Jan 25, 2019
telomere maintenance 2
TELO2 codes for a protein that has a critical role in checkpoint responses to cellular stress (Takai et al., 2007).
Interested in learning more about this gene or sharing what you know? Contact us!