Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Por um escritor misterioso
Last updated 22 março 2025


PDF) Neurological Manifestations of Rubinstein-Taybi syndrome: A Case Report

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300

Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

Genes, Free Full-Text

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

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Genes, Free Full-Text

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Infantile glaucoma in Rubinstein–Taybi syndrome

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