A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype
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DOI: 10.1097/mcd.0000000000000376
Abstract: Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics, Karadeniz Technical University Faculty of… read more here.
Keywords: medicine; proximal exon; frameshift variant; genetics ... See more keywords