Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein

April is diagnosed with Rubinstein-Taybi syndrome. She is nonverbal and not yet able to communicate verbally. Her sister, Rachel, is studying to become a

PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Rubinstein–Taybi syndrome European Journal of Human Genetics

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Genes, Free Full-Text

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

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

Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library

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