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On this page, you will find information about a genetic change that was identified in a UDN participant.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Feb 01, 2018
activity dependent neuroprotector homeobox
A change in the ADNP gene was identified in a UDN participant. The participant, a 4-year-old male with Helsmoortel-van der Aa syndrome was found to carry the following genetic change in the ADNP gene: c.539_542delTTAG / p.V180fs.
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