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
Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
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
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Pérez-Grijalba V et al.
Molecular Genetics & Genomic Medicine, 2019
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