Rubinstein–Taybi syndrome European Journal of Human Genetics

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

PDF] Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

Rubinstein–Taybi syndrome European Journal of Human Genetics

PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Dandy walker variant an association with Rubinstein Taybi syndrome

PDF) Rubinstein-Taybi syndrome medical guidelines

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X

Figure 1 from Rubinstein-Taybi Syndrome in a 19-years old boy.

Genes, Free Full-Text

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

PDF) Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH

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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library