Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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Last updated 29 março 2025


PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

PDF) Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations

PDF) Rubinstein-Taybi syndrome medical guidelines

PDF) Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

Genes, Free Full-Text

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
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