EP300 mutations are comparatively rare as only six have been described so far, in six patients with a mild clinical presentation. 6, 18, 19, 20 The pathological mechanism has been clarified in ...

For one Hoboken mother, the day before the Fourth of July means more than just thinking about fireworks and barbecues. Today is World RTS day, meant to raise awareness of Rubinstein-Taybi Syndrome, a ...

HOLLAND, Ohio — Five-year-old William Grisier of Holland, Ohio, who lives with a rare genetic condition known as Rubinstein-Taybi syndrome, is heading to summer camp this year—thanks to an $800 grant ...

Theo Ridenour, center, with his siblings. Theo has a rare disease called Rubinstein-Taybi Syndrome. When Kelly Ranallo's first child was born 21 years ago, something seemed wrong, but no one could put ...