First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant-Reference-Cited by-同舟云学术

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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

Published:2016-12 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

López María,Seidel Verónica,Santibáñez Paula,Cervera-Acedo Cristina,Castro-de Castro Pedro,Domínguez-Garrido Elena

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0361-8.pdf

Reference18 articles.

1. 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(5):327–33.

2. 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(1):181–4.

3. Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein-Taybi syndrome. Am J Med Genet A. 2010;152A(9):2254–61.

4. Chiang PW, Lee NC, Chien N, Hwu WL, Spector E, Tsai AC. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A. 2009;149A(7):1463–7.

5. Cotsirilos P, Taylor JC, Matalon R. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Am J Med Genet. 1987;26(1):85–93.

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