The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

NUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants in NUDT2 has recently been reported as a rare cause of intellect...

Source: BMC Pediatrics - January 19, 2024 Category: Pediatrics Authors: Bo Bi, Xiaohong Chen, Shan Huang, Min Peng, Weiyue Gu, Hongmin Zhu and Yangcan Ming Tags: Case Report Source Type: research