Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Por um escritor misterioso
Last updated 06 junho 2024
Skeletal findings of patients carrying mutations of the EP300 gene
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Infantile glaucoma in Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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