1.
Nawaz H, Parveen A, Khan SA, et al. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients. Heliyon. 2024;10(1):e23688. doi:10.1016/j.heliyon.2023.e23688.
1.
Kipkemoi P, Kim HA, Christ B, et al. Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. 2023. doi:10.1016/j.neuron.2023.06.010.
1.
Khalil R, Kenny C, Hill S, et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018;177(8):736-745. doi:10.1002/ajmg.b.32688.