A novel de novo mutation in MYT1, the unique OAVS gene identified so far-Reference-Cited by-同舟云学术

A novel de novo mutation in MYT1, the unique OAVS gene identified so far

Published:2017-06-14 Issue:9 Volume:25 Page:1083-1086
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Berenguer Marie,Tingaud-Sequeira Angele,Colovati Mileny,Melaragno Maria I,Bragagnolo Silvia,Perez Ana B A,Arveiler Benoit,Lacombe Didier,Rooryck Caroline

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2017101.pdf

Reference22 articles.

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2. Lopez E, Berenguer M, Tingaud-Sequeira A et al: Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. J Med Genet 2016; 53: 752–760.

3. Lammer EJ, Chen DT, Hoar RM et al: Retinoic acid embryopathy. N Engl J Med 1985; 313: 837–841.

4. Rooryck C, Souakri N, Cailley D et al: Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. Am J Med Genet 2010; 152A: 1984–1989.

5. Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M : Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet 2014; 51: 635–645.

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