PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
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Last updated 19 outubro 2024
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PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi syndrome (CREBBP, EP300)
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
PDF) Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)
PDF) Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 , DNASE1 , TRAP1 , and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
PDF) Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
PDF) Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
PDF) Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
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