Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

PDF) Rubinstein-Taybi syndrome with agenesis of corpus callosum

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC

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

A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

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

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. - Abstract - Europe PMC

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library