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

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC

Enhancers: bridging the gap between gene control and human disease. - Abstract - Europe PMC

Kabuki Syndrome-Clinical Review with Molecular Aspects. - Abstract - Europe PMC

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

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

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC

Genetic Disorder: Most Up-to-Date Encyclopedia, News & Reviews

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

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

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

PDF) Rubinstein-Taybi syndrome with agenesis of corpus callosum