ASXL3 Mutations &
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.
ARRE currently supports research for ASXL1, 2, and 3 mutations.
Leo's Lighthouse supports research for ASXL3 mutations.
ASXL3/BRS Social Media
Published on the Baylor College of Medicine Blog: 3/2018
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.
De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies by Dinwiddie et. al (2013)