Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R.
Klaniewska M, et al.
Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1.
Mol Genet Genomic Med. 2023.
PMID: 37658610
Free PMC article.
BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. ...Currently, diseases c …
BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant a …