首页> Genes> What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo <i>KAT6A</i> Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo <i>KAT6A</i> Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.

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第一作者： Nenad,Bukvic

第一单位： Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.

作者： Nenad,Bukvic ^[1] ; Massimiliano,Chetta ^[2] ; Rosanna,Bagnulo ^[3] ; Valentina,Leotta ^[3] ; Antonino,Pantaleo ^[3] ; Orazio,Palumbo ^[4] ; Pietro,Palumbo ^[4] ; Maria,Oro ^[2] ; Maria,Rivieccio ^[2] ; Nicola,Laforgia ^[5] ; Marta,De Rinaldis ^[6] ; Alessandra,Rosati ^[7] ; Jennifer,Kerkhof ^[8] ; Bekim,Sadikovic ^[8] ; Nicoletta,Resta ^[3]

作者单位： Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy. ^[1] U.O.C. Genetica Medica e di Laboratorio, Ospedale Antonio Cardarelli, 80131 Napoli, Italy. ^[2] Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy. ^[3] Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy. ^[4] Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy. ^[5] Scientific Institute IRCCS "E. Medea", Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), 72100 Brindisi, Italy. ^[6] Department of Medicine, Surgery and Dentistry "Schola Medica Salernitana", University of Salerno, 84081 Baronissi, Italy. ^[7] Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. ^[8]

关键词 Arboleda-Tham syndrome KAT6A SNP array clinical exome sequencing episignature methylation studies

医学主题词人类(Humans);密码子, 无义(Codon, Nonsense);基因检测(Genetic Testing);组蛋白酰基转移酶(Histone Acetyltransferases);表型(Phenotype)

DOI 10.3390/genes14010165

PMID 36672906

发布时间 2023-11-17

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