Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

PDF] Rubinstein-Taybi Syndrome in a 19-years old boy.

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Clinical and Experimental Pediatrics

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis