A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders

Giuseppe Marangi, Paolo Niccolo' Doronzio, Silvia Frangella, Marcella Zollino, Marilena Carmela Di Giacomo, Serena Lattante, Daniela Orteschi, Francesco Nicola Riviello, Alessandro Vaisfeld, Marilena C. Di Giacomo, Francesco N. Riviello

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Medicine & Life Sciences