Chopra M et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021;S0002-9297(21)00138-5. PMID: 33909992.
Tinatin T, Kakha B, Mikheil G, Tamari SD, Elene A. A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report. SAGE Open Med Case Rep. 2023 Jul 10;11:2050313X231186496. doi: 10.1177/2050313X231186496. PMID: 37456926; PMCID: PMC10338725.
Chen J, Yang S, Wang H, Wang H, Xiao Y, Liu S. Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder. Front Genet. 2024 Sep 9;15:1422469. doi: 10.3389/fgene.2024.1422469. PMID: 39315309; PMCID: PMC11416919.
Xia D, Xu Y, He Z, Chen R, Xiao X, Li X, Deng K, Deng S, Zhang L, Zhang J, Peng X, Meng Z, Wu R, Wang D, Liu Z, Chen H, Li L, Liang L. Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder. J Neurodev Disord. 2025 Jul 2;17(1):36. doi: 10.1186/s11689-025-09619-3. PMID: 40604385; PMCID: PMC12219137.