Fig. 4From: Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case reporta-c Sanger sequencing of the ASXL3 mutation in the patient and her parents. a, A heterozygous frame shift mutation (c.3493_3494del) in the patient. b, Not found in her father. c, Not found in her mother. The arrow indicates the location of the mutationBack to article page