New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Virginia Pérez-GrijalbaAlberto García-OguizaMaría LópezJudith ArmstrongSixto García-MiñaurJose María Mesa-LatorreMar O'CallaghanMercé Pineda MarfaMaria Antonia Ramos-ArroyoFernando Santos-SimarroVerónica SeidelElena Dominguez GarridoPublished in: Molecular genetics & genomic medicine (2019)
Seventeen of the 40 genetic variants detected were reported for the first time in this work contributing, thus, to expand the molecular knowledge of this complex disorder.