Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum-Reference-Cited by-同舟云学术

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

Published:2018-03-05 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

López María,García-Oguiza Alberto,Armstrong Judith,García-Cobaleda Inmaculada,García-Miñaur Sixto,Santos-Simarro Fernando,Seidel Verónica,Domínguez-Garrido Elena^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0548-2.pdf

Reference16 articles.

1. Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006;14:981–5.

2. Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007;44:327–33.

3. Bartsch O, Labonté J, Albrecht B, Wieczorek D, Lechno S, Zechner U, et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet. 2010;152A:181–4.

4. López M, Seidel V, Santibañez P, Cervera-Acedo C, Castro-de CP, Dominguez-Garrido E. First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. BMC Med Genet. 2016;17:97.

5. Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376(6538):348–51.

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