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 1. The pedigree of a family with the proband affected by global developmental delay and autistic features. Circles and squares represent female and male family members, respectively. The proband is indicated by the arrow. GDD – global developmental delay; het – heterozygous; wt – wild type.