Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0747-5.pdf
Reference20 articles.
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2. Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet. 2002;39(7):496–501.
3. Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995;56:112–5.
4. Zimmermann N, Acosta AMBF, Kohlhase J, Bartsch O. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Europ J Hum Genet. 2007;15:837–42.
5. Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, DDD study, Suri M. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Clin Dysmorph. 2016;25:135–47.
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1. Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning;Journal of Clinical Medicine;2024-09-02
2. Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome;Frontiers in Genetics;2023-06-21
3. A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome;BMC Medical Genomics;2022-08-19
4. Polycomb-dependent histone H2A ubiquitination links developmental disorders with cancer;Trends in Genetics;2021-08
5. The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective;Cellular and Molecular Life Sciences;2020-12-02
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