Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome-Reference-Cited by-同舟云学术

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

Published:2023-05-29 Issue:9 Volume:31 Page:975-976
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Vincent Krista M.^ORCID,Graham Gail E.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01385-x.pdf

Reference17 articles.

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2. Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi syndrome: a model of epigenetic disorder. Genes (Basel). 2021;12:968.

3. 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.

4. 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.

5. 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.

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