@article{oai:nagasaki-u.repo.nii.ac.jp:00000447,
 author = {Hamaguchi, Yo and Aoki, Mikihiro and Watanabe, Satoshi and Mishima, Hiroyuki and Yoshiura, Koh-ichiro and Moriuchi, Hiroyuki and Dateki, Sumito},
 issue = {1},
 journal = {Human Genome Variation},
 month = {Dec},
 note = {Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes., Human Genome Variation, 6(1), art.no.54; 2019},
 title = {KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)},
 volume = {6},
 year = {2019}
}