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Rubinstein–Taybi because of a novel EP300 mutation with novel clinical findings

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Department of Pediatrics, Jagiellonian University Medical College, Kraków, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland and Jeroen KJ van Houdt, Center for Human Genetics, University Hospital… Click to show full abstract

Department of Pediatrics, Jagiellonian University Medical College, Kraków, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland and Jeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven, Belgium Correspondence to Mateusz Jagla, PhD, Department of Pediatrics, Jagiellonian University Medical College, Wielicka Street 265, Cracow 30-663, Poland Tel: + 48 126582011 fax: + 48 126584446 e-mail: [email protected]

Keywords: taybi novel; novel ep300; ep300 mutation; genetics; university; rubinstein taybi

Journal Title: Clinical Dysmorphology
Year Published: 2017

Link to full text (if available)


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