Fig. 1From: De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case reportA Phenotypic characteristics of the patient; B Brain MRI of the patient. Imaging of the brain shows inappropriate myelination and disturbed white matter integrity; C Genetic test results. Sanger sequencing reveals a c.3147G>A; p.P1049P de novo heterogeneous mutation in this patientBack to article page