Patient Stories Rubinstein-Taybi Syndrome

Children who have Rubinstein-Taybi syndrome can, and do, grow and thrive. Find stories of hope from our patients who are living life to the fullest.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Rubinstein taybi syndrome

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

Born with Rubinstein-Taybi Syndrome (RTS), Braxton and Family are Full of Hope - Global Genes

Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations

Rubinstein-Taybi Syndrome

Reversing Rubinstein-Taybi Syndrome (RSTS): Success Stories Part 2 The Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients. Volume 7: : Central, Health: 9781395721800: Books

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

First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library

An approach to a chil with microcephaly