MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Last talk in the session is by Ilaria Parenti & how heterozygous #MAU2 variants cause a CdLS phenotype. They identified additional patients after their initial publication. 👇 Patients show episignature similar to #NIPBL. 👏 #GfH2023 https://t.co/m2AJO

Article: MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome (This work made use of the NEXTflex ChIP-seq kit) https://t.co/vbiFW6syrz #NIPBLMAU2 #CRISPRCas9 #becausescienceishard #ChIP

RT @CellReports: Looking at MAU2 and NIPBL variants in #CorneliadeLange Syndrome https://t.co/ZGKn7bo3XI

Looking at MAU2 and NIPBL variants in #CorneliadeLange Syndrome https://t.co/ZGKn7bo3XI