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HARVARD Citation
Marangi, G. et al. (2018). 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. American journal of medical genetics. 176 (2), pp. 455-459. [Online].