Willem Verhoeven Jos Egger Emmy Räkers Arjen van Erkelens Rolph Pfundt Marjolein H Willemsen
10.2147/NDT.S153511
Neuropsychiatr Dis Treat
2018 Mar 27;14:867-870.
aslx3 bainbridge-ropers syndrome array analysis autism spectrum disorder epilepsy frameshift mutation intellectual disability whole exome sequencing
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/29628764/
Case Reports
PMC5877499
29628764
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome
2018