Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Por um escritor misterioso
Last updated 04 janeiro 2025
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Facial morphology of the presently described patient with the CREBBP
IJMS, Free Full-Text
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
IJMS, Free Full-Text
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
CBP/EP300 acetylates and stabilizes the stress-responsive Heat Shock Factor 2, a process compromised in Rubinstein-Taybi syndrome
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