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.

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: article
Langue:EN
Publié: Nature Portfolio 2018
Sujets:
Science
Q
Accès en ligne:https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb2264
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Internet

https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb2264

Documents similaires