ASXL3

Learn more about the ASXL3 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for ASXL3.

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Research Article Summaries

Below, we have summarized research articles about changes in the ASXL3 gene. We hope you find this information helpful.

The information available about ASXL3 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

 

Clinical whole-exome sequencing in child neurology practice

Original research article by S. Srivastava et al. (2014).

Read the abstract here and the Simons Searchlight summary here.

 

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Original research article by M.N. Bainbridge et al. (2013).

Read the article here and the Simons Searchlight summary here.

 

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Original research article by D.L. Dinwiddie et al. (2013).

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ASXL3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from ASXL3 families:

Click here to share your family’s story!