MAP1B mutations cause intellectual disability and extensive white matter deficit

MAP1B mutations cause intellectual disability and extensive white matter deficit

Intellectual disability (ID) is characterized by an intelligence quotient of below 70 and impaired adaptive skills. Here, analyzing whole genome sequences from 31,463 Icelanders, Walters et al. identify variants in MAP1B associated with ID and extensive brain-wide white matter deficits.

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Auteurs principaux: G. Bragi Walters, Omar Gustafsson, Gardar Sveinbjornsson, Valgerdur K. Eiriksdottir, Arna B. Agustsdottir, Gudrun A. Jonsdottir, Stacy Steinberg, Arni F. Gunnarsson, Magnus I. Magnusson, Unnur Unnsteinsdottir, Amy L. Lee, Adalbjorg Jonasdottir, Asgeir Sigurdsson, Aslaug Jonasdottir, Astros Skuladottir, Lina Jonsson, Muhammad S. Nawaz, Patrick Sulem, Mike Frigge, Andres Ingason, Askell Love, Gudmundur L. Norddhal, Mark Zervas, Daniel F. Gudbjartsson, Magnus O. Ulfarsson, Evald Saemundsen, Hreinn Stefansson, Kari Stefansson
Format: article
Langue:EN
Publié: Nature Portfolio 2018
Sujets:
Science
Q
Accès en ligne:https://doaj.org/article/d70b7d7d8ac24f859136afd1d51a5234
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