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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.
Changes in this gene were identified in a female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis) (read full description).
Apr 25, 2016
Rho guanine nucleotide exchange factor 17
The ARHGEF17 gene codes for a guanine nucleotide exchange factor for RhoA GTPases (Rümenapp et al., 2002 ).
A 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!