12 July 2024
: Case report 
Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis
Challenging differential diagnosis, Rare disease, Clinical situation which can not be reproduced for ethical reasons
Mario Ćuk1ADEFG, Luka Lovrenčić
1CDEF, Busra Unal2CDEF, McKenzie Walker2CDE, Connor P. Hayes 2CDE, Goran Krakar3DEF, Robert Beluzić4DEF, Ivona Sansović5DEF, Goran Pavliša6DEF, Arezou A. Ghazani278ABDEFG*
DOI: 10.12659/AJCR.943641
Am J Case Rep 2024; 25:e943641
Figure 2. Brain MRI of the patient. At 7 months of age, axial T2-weighted images of 2 contiguous slices: (A) at the level of the lateral ventricles and basal ganglia and (B) immediately superior to that, at the level of corona radiata showed a reduced volume of periventricular white matter, with subsequently slightly ex vacuo enlarged lateral ventricles, especially frontal horns. Also, there was unfinished myelination, which was within the normal limits for the chronological age of 7 months at the time of scan.