Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Why and how mutations in genes encoding BAF complex components lead to distinct disease entitites remains unresolved. In this study, authors establish the first Smarcb1 mutant mouse model with multiple brain abnormalities recapitulating human Coffin–Siris syndrome and show that one prominent midline...

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Bibliographic Details
Main Authors: Alina Filatova, Linda K. Rey, Marion B. Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W. E. Santen, Dagmar Wieczorek, Ulrike A. Nuber
Format: Article
Language:English
Published: Nature Portfolio 2019-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-10849-y

Internet

https://doi.org/10.1038/s41467-019-10849-y

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