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

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Last updated 30 janeiro 2025

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Molecular characteristics of meningiomas

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

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

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

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

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

CBP Is Required for Establishing Adaptive Gene Programs in the Adult Mouse Brain. - Abstract - Europe PMC

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

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

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC

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

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