COMING SOON: PUBERTY SURVEY FOR ALL ASXL FAMILIES!
Dr. Bianca Russell, a pediatric geneticist from UCLA, reached out to let us know about a new Puberty Survey for all ASXL families that will be launched soon.
The UCLA ASXL Registry team is currently working on a new survey regarding puberty in children with ASXL conditions. This study will be conducted through the ASXL Registry at UCLA and will be open to all ASXL1, ASXL2, and ASXL3 families.
If you would like to participate, please enroll in in the Registry and provide your genetic testing so you can receive the survey!
If you are already enrolled in the Registry, you will automatically receive the puberty survey when it is available. Contact us at asxl-chromatin-registry@mednet.ucla.edu for more information regarding enrollment.
Bianca E. Russell, M.D., FAAP, FACMG
Assistant Clinical Professor
Associate Program Director, Genetics Training Program
Division of Pediatric Genetics
Department of Pediatrics
Bohring-Opitz Syndrome 
You are a superstar!!!!
Sent from my iPhone
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Hi London is 7 and she is starting puberty. We would like to participate for sure. There is blood sample with sick kids in Toronto so I can provide authorization to use that or provide an additional sample. Thank you all for all your hard work and dedication.
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Hello Amy, thank you for your message. Your contribution would surely benefit the survey! The best way is to contact Bianca Russell via email above. Thank you!
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