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Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, et al. What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes. 2023; 14(1):165. https://doi.org/10.3390/genes14010165

Bukvic, Nenad, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, and et al. 2023. "What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis" Genes 14, no. 1: 165. https://doi.org/10.3390/genes14010165

Bukvic, N., Chetta, M., Bagnulo, R., Leotta, V., Pantaleo, A., Palumbo, O., Palumbo, P., Oro, M., Rivieccio, M., Laforgia, N., De Rinaldis, M., Rosati, A., Kerkhof, J., Sadikovic, B., & Resta, N. (2023). What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes, 14(1), 165. https://doi.org/10.3390/genes14010165