Axenfeld-Rieger syndrome: more than meets the eye

Conclusion Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

http://jmg.bmj.com/cgi/content/short/60/4/368?rss=1

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Reis, L. M., Maheshwari, M., Capasso, J., Atilla, H., Dudakova, L., Thompson, S., Zitano, L., Lay-Son, G., Lowry, R. B., Black, J., Lee, J., Shue, A., Kremlikova Pourova, R., Vaneckova, M., Skalicka, P., Jedlickova, J., Trkova, M., Williams, B., Richard, Tags: Open access Genotype-phenotype correlations Source Type: research