Clinical heterogeneity of polish patients with KAT6B–related disorder

Clinical heterogeneity of polish patients with KAT6B–related disorder

Abstract 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. KAT6B encodes a highly conserved histone acetyltransferase belon...

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Main 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 Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
dysmorphism
GPS
KAT6B gene
KAT6B–related disorder
SBBYSS
Online Access:https://doi.org/10.1002/mgg3.2265

Internet

https://doi.org/10.1002/mgg3.2265

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