https://revistas.usp.br/clinics/article/view/18429
Rubinstein-Taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3;...
https://www.rtsuk.org.uk/
Rubinstein-Taybi Syndrome • RTS Support Group
Rubinstein-Taybi Syndrome (RTS) is an extremely rare genetic condition, occurring in around one person per 125,000 live births.
rubinsteinsyndromertssupportgroup
https://rubinstein-taybi.org/
Rubinstein Taybi
rubinstein
https://pubmed.ncbi.nlm.nih.gov/18773673/
Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report
We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus...
https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1059658/full
Frontiers | Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata...
BackgroudRubinstein-Taybi syndrome (RTS) is an autosomal inherited disease,associated with de novo variants in the epigenetics-associated gene, CREBBP.It is ...
case reportpreterm infant