top of page

Family Support & Resources

Currently our Facebook page is the best place to meet other ASXL3/BRS families. The group offers advice, health and development information, and encouragement. It is a private group so please click the link and send a request to be added. 

ASXL Rare Research Endowment

ARRE currently supports research for ASXL1, 2, and 3 mutations.

Leo's Lighthouse

Leo's Lighthouse supports research for ASXL3 mutations.

ASXL3/BRS Social Media 

  • Facebook Social Icon
  • Twitter Social Icon
  • Google+ Social Icon

Media

SPARK for Austism ASXL3 Family Profile

Published 7/2018

Family finds answers, hope after discovery of rare genetic disorder

Published on the Baylor College of Medicine Blog: 3/2018

Published Research

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2017)

Paper written by Caitlin Calder, graduate student studying speech-language pathology, and mother of child with ASXL3 mutation

​

Click here to read a PDF version of the paper.

 

 

Original Study on ASXL3 Mutations by Dr. Bainbridge et. al (2013)

​

 

 

 

De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies by Dinwiddie et. al (2013)

​

 

 

Updated: 7/26/2018

 

 

bottom of page