Associated Papers
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
Choi N et al.
Molecular Genetics & Genomic Medicine, 2021
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
Lee JS et al.
Brain & Development, 2015
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation.
Kim SH et al.
Korean Journal of Pediatrics, 2010
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK et al.
American Journal of Medical Genetics. Part A, 2008
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