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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.
Bukvic, Nenad; Chetta, Massimiliano; Bagnulo, Rosanna; Leotta, Valentina; Pantaleo, Antonino; Palumbo, Orazio; Palumbo, Pietro; Oro, Maria; Rivieccio, Maria; Laforgia, Nicola; De Rinaldis, Marta; Rosati, Alessandra; Kerkhof, Jennifer; Sadikovic, Bekim; Resta, Nicoletta.
Afiliación
  • Bukvic N; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.
  • Chetta M; U.O.C. Genetica Medica e di Laboratorio, Ospedale Antonio Cardarelli, 80131 Napoli, Italy.
  • Bagnulo R; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Leotta V; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Pantaleo A; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Palumbo O; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Palumbo P; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Oro M; U.O.C. Genetica Medica e di Laboratorio, Ospedale Antonio Cardarelli, 80131 Napoli, Italy.
  • Rivieccio M; U.O.C. Genetica Medica e di Laboratorio, Ospedale Antonio Cardarelli, 80131 Napoli, Italy.
  • Laforgia N; Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • De Rinaldis M; Scientific Institute IRCCS "E. Medea", Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), 72100 Brindisi, Italy.
  • Rosati A; Department of Medicine, Surgery and Dentistry "Schola Medica Salernitana", University of Salerno, 84081 Baronissi, Italy.
  • Kerkhof J; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
  • Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
  • Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
Genes (Basel) ; 14(1)2023 01 07.
Article en En | MEDLINE | ID: mdl-36672906
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Histona Acetiltransferasas / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Histona Acetiltransferasas / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Italia