Essential genetic findings in neurodevelopmental disorders

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2019

Autores

Cardoso, AR (Autor) Outra; Lopes Marques, M (Autor) Outra; Silva, RM (Autor) Outra; Serrano, C (Autor) Outra; Amorim, A (Autor) FCUP; Prata, MJ (Autor) FCUP; Luisa Azevedo (Autor) FCUP

Revista

Título: Human Genomics

Vol. 13

Página Final: 31

ISSN: 1473-9542

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 26 Citações

Scopus - 28 Citações

Outras Informações

ID Authenticus: P-00Q-VV0

DOI: 10.1186/s40246-019-0216-4

Abstract (EN): 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, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 7