Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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Last updated 09 novembro 2024
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Genes, Free Full-Text
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
Genes, Free Full-Text
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
PDF) Rubinstein-Taybi syndrome medical guidelines
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