Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

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