Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 02 junho 2024
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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