Associated Papers
Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.
Tang Y et al.
Human Molecular Genetics, 2026
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S et al.
Hgg Advances, 2024
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Menke-Hennekam Syndrome: A Literature Review and a New Case Report.
Sima A et al.
Children (basel, Switzerland), 2022
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Nishi E et al.
American Journal of Medical Genetics. Part A, 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
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Angius A et al.
American Journal of Medical Genetics. Part A, 2019
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N et al.
Journal of Biosciences, 2010
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