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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.
A change in this gene was identified in a female, age 1 with brain abnormalities (agenesis of the corpus callosum and arachnoid cyst) and chronic diarrhea (read full description).
Aug 14, 2019
aristaless related homeobox
The ARX gene is part of a family of homeobox genes that are important in early embryonic development. In particular, the ARX gene codes for a protein that acts as a transcription factor and is important in the development of the brain, pancreas, and testes. (Gécz et al., 2006).
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