Essential genetic findings in neurodevelopmental disorders

Abstract Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, cop...

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Autors principals: Ana R. Cardoso, Mónica Lopes-Marques, Raquel M. Silva, Catarina Serrano, António Amorim, Maria J. Prata, Luísa Azevedo
Format: Artigo
Idioma:Inglês
Publicat: BMC 2019-07-01
Col·lecció:Human Genomics
Matèries:
Neurodevelopmental disorders
Brain-related genes
Deleterious mutations
de novo mutations
Polymorphisms
Risk alleles
Accés en línia:http://link.springer.com/article/10.1186/s40246-019-0216-4
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