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Join the TNPO2 Community

Join us to meet other patients, other families and caregivers. 

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Our patient community is hosted as a private Facebook Group.  Started in 2018 by the parent of the first patient identified to have TNPO2 disorder, it is a place where we can support each other.  Our patients live all over the world, many in the US, Europe, and even Australia.​​

Scientific Literature on TNPO2 Disorder

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Certain mutations in the TNPO2 gene were discovered to be pathogenic in 2021. 

 

Due to the low prevalence of patients with these mutations, little is known about the molecular mechanisms.  We've collected much of the basic science about biology relating to the TNPO2 gene and its pathogenic variants here.

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