PDF) Rubinstein-Taybi syndrome medical guidelines

Rubinstein–Taybi syndrome - Wikipedia

Forgotten Diseases Research Foundation

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document

OMIM diseases as a function of associated HPO phenotypes. Data include

PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

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