A new update from the ASXL registry is given this month! This registry has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals.
In this newsletter, the actual numbers of registered individuals were displayed. At the last ASXL conference, a large number of families participated again the ASXL Registry, the Biobank, and
consented the EEG study.
The patient registry has a new coordinator with Julia Sloan, and new publications on the ASXL disorders have been published. New research projects have also begun; namely an EEG study and a study on puberty.
Download here the ASXL Registry Newsletter February 2023: