Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
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Last updated 22 setembro 2024
Rubinstein-Taybi Syndrome
Genes, Free Full-Text
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Genes, Free Full-Text
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi syndrome European Journal of Human Genetics
PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
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