Rubinstein–Taybi because of a novel EP300 mutation with novel clinical findings
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DOI: 10.1097/mcd.0000000000000164
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,… read more here.
Keywords: taybi novel; novel ep300; ep300 mutation; genetics ... See more keywords