Fig. 1
From: The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants
A Chinese family with NUDT2 compound heterozygous variants causing intellectual disability. (A) Sagittal brain MRI of the patient. Note thinning of the corpus callosum (arrow). (B) Pedigree of the family. An arrow indicates the proband. The patient (II-1) had compound heterozygous variants p.I65R and p.R12*, which were inherited from her father (I-1) and mother (I-2), respectively. (C) Sanger sequencing pherograms show compound heterozygosity of NUDT2 in the proband and heterozygosity in both parents