ANKRD11

Learn more about the ANKRD11 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

For families:

To bring to your doctors:

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Research Article Summaries

Below, we have summarized research articles about changes in the ANKRD11 gene. We hope you find this information helpful.

The information available about ANKRD11 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 and genetic aspects of KBG syndrome

Original research article by K. Low et al. (2016).

Read the article here and the Simons Searchlight summary here.

 

Clinical whole-exome sequencing for the diagnosis of Mendelian disorders

Original research article by Y. Yang et al. (2013).

Read the article here and the Simons Searchlight summary here.

 

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Original research article by A. Sirmaci et al. (2011).

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 ANKRD11 genetic changes by jtaking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from ANKRD11 families:

Click here to share your family’s story!