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 | 2023-01-07 | PMID 36672906
Bukvic Nenad, Chetta Massimiliano, Bagnulo Rosanna and 12 more
