Identification of rare de novo epigenetic variations in congenital disorders

Identification of rare de novo epigenetic variations in congenital disorders

A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of these undiagnosed patients.

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Autores principales: Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Science
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Acceso en línea:https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb2264
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