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. 2023 Sep;31(9):975-976.
doi: 10.1038/s41431-023-01385-x. Epub 2023 May 29.

Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome

Krista M Vincent  1 , Gail E Graham  2
Affiliations

Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome

Krista M Vincent et al. Eur J Hum Genet. 2023 Sep.
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

References

    1. Stevens CA. Rubinstein-Taybi syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al. editors. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2002. https://www.ncbi.nlm.nih.gov/books/NBK1526/. - PubMed
    1. Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi syndrome: a model of epigenetic disorder. Genes (Basel) 2021;12:968. doi: 10.3390/genes12070968. - DOI - PMC - PubMed
    1. Cross E, Duncan-Flavell PJ, Howarth RJ, Hobbs JI, Thomas NS, Bunyan DJ. Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain. Am J Med Genet A. 2020;182:2508–20. doi: 10.1002/ajmg.a.61813. - DOI - PubMed
    1. Perez-Grijalba V, Garcia-Oguiza A, Lopez M, Armstrong J, Garcia-Minaur S, Mesa-Latorre JM, et al. New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients. Mol Genet Genom Med. 2019;7:e972. - PMC - PubMed
    1. Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, et al. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016;170:3069–82. doi: 10.1002/ajmg.a.37940. - DOI - PubMed