Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska MagdalenaBolanowska-Tyszko AnnaLatos-Bielenska AnnaJezela-Stanek AleksandraSzczaluba KrzysztofKrajewska-Walasek MalgorzataCiara ElzbietaPelc MagdalenaJurkiewicz DorotaStawinski PiotrZubkiewicz-Kucharska AgnieszkaRydzanicz MałgorzataPloski RafalSmigiel RobertPublished in: Molecular genetics & genomic medicine (2023)
While most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.