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Genes2023, 14(1), 165;https://doi.org/10.3390/genes14010165

Journal: GenesVolume: 14Number: 165

Article: 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

Authors:
Nenad Bukvic^1,*,
Massimiliano Chetta² and
Rosanna Bagnulo³
et al.

Link: https://www.mdpi.com/2073-4425/14/1/165

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