Essential genetic findings in neurodevelopmental disorders

• Type: Another Publication in an International Scientific Journal
• Date: 2019

Authors

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

Journal

Title: Human Genomics

Vol. 13

Final page: 31

ISSN: 1473-9542

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 26 Citations

Scopus - 28 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7