Fiche publication
Date publication
mai 2026
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Saad R, Gigli CC, van der Sluijs PJ, Wilson JR, Hsieh TC, McConnell VPM, Bacino C, Bird LM, Adam S, Clarke L, Cobben JM, Travessa A, Faivre L, Farholt S, Gregersen P, van Hasselt J, Lahiri N, Palmer EE, Sheffer R, Clayton-Smith J, Wilnai Y, Deshpande C, Morton JEV, Clement E, Santen GWE, Dias C
Lien Pubmed
Résumé
Variants in SMARCB1, encoding a core subunit of the BAF chromatin remodeling complex, are associated with intellectual developmental disorders, particularly Coffin-Siris Syndrome (CSS), though the genotype-phenotype spectrum remains incompletely defined. This study aims to assess correlations between SMARCB1 variant location and phenotypic manifestations.
Mots clés
BAF SWI/SNF complex, Coffin-Siris Syndrome, Genotype-phenotype correlations, Machine learning, SMARCB1
Référence
Genet Med. 2026 05 27;:102614
