Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
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Last updated 15 maio 2024
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Infantile glaucoma in Rubinstein–Taybi syndrome
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome
Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
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