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Last Updated: 10/31/2025
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Found 702 publications
Chronic Dacryocystitis With Elevated IgG4-Plasma Cells in a Patient With Rubinstein-Taybi Syndrome: An IgG4-Related Disease?
Journal: Ophthalmic plastic and reconstructive surgery
Published: September 23, 2025
DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome.
Journal: International journal of molecular sciences
Published: August 19, 2025
Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.
Journal: Genes
Published: June 23, 2025
The Complex Network of p300/CBP Regulation: Interactions, Post-Translational Modifications, and Therapeutic Implications.
Journal: The Journal of biological chemistry
Published: June 06, 2025
A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.
Journal: Molecular syndromology
Published: May 31, 2025
A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.
Journal: Gene
Published: April 25, 2025
Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Journal: Dermatopathology (Basel, Switzerland)
Published: April 14, 2025
Challenges in Prenatal Ultrasound Diagnosis of Rubinstein-Taybi Syndrome: A Case Report and Comprehensive Literature Review.
Journal: International journal of molecular sciences
Published: April 10, 2025
Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.
Journal: Frontiers in genetics
Published: March 31, 2025
Anaesthetic Management of a patient with Rubinstein Taybi Syndrome.
Journal: Irish medical journal
Published: March 26, 2025
Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.
Journal: Frontiers in genetics
Published: March 06, 2025
Two Cases of Rubinstein-Taybi Syndrome With Retinal Detachment.
Journal: Cureus
Published: March 04, 2025
Last Updated: 10/31/2025