Clinical heterogeneity of polish patients with KAT6B –related disorder

ConclusionWhile 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.

Source: Molecular Genetics & Genomic Medicine - September 2, 2023 Category: Genetics & Stem Cells Authors: Klaniewska Magdalena, Bolanowska ‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Tags: ORIGINAL ARTICLE Source Type: research