The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era (Pre-Print)

Written By Peter Slavish

Authors: Katarina Mueller, Mary Grace Shine, Jae Lee, Soo-Kyung Lee, Karen E. Malone

Journal: PREPRINT in Research Square

Date: September 2, 2024

Abstract: FOXG1 Syndrome was first identified in 2005 and has been closely associated with Rett Syndrome. However, with access to genetic testing an increasing number of patients have been identified that do not fulfill Rett Syndrome clinical criteria. Utilizing genetic surveys of large, severe neuro-developmental disease (NDD) cohorts, we provide the first prevalence estimates of FOXG1 Syndrome independent of Rett Syndrome clinical criteria.

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Peter Slavish
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