ASXL Puberty Survey

This UCLA-led study explored how puberty affects individuals with ASXL syndromes using parent-reported surveys and optional medical record sharing to examine developmental changes.

Initial findings are explained in the recorded webinar hosted by the ARRE Foundation and were published in August 2025:  Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis