Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.
Linfeng YangBin GuoWeiwei ZhuLei WangBingjuan HanYena CheLingfei GuoPublished in: BMC pediatrics (2020)
The main clinical features of the patient included psychomotor development retardation, difficulty in feeding, hypotonia, and special facial features. MRI features showed that brain development lagged behind that of normal children. Genetic testing is helpful in the early diagnosis of BRPS.