Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Más filtros

Banco de datos
Tipo del documento
Asunto de la revista
Intervalo de año de publicación
1.
Trends Genet ; 38(2): 140-151, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34364706

RESUMEN

Rare copy-number variants (CNVs) associated with neurodevelopmental disorders (NDDs), i.e., ND-CNVs, provide an insight into the neurobiology of NDDs and, potentially, a link between biology and clinical outcomes. However, ND-CNVs are characterised by incomplete penetrance resulting in heterogeneous carrier phenotypes, ranging from non-affected to multimorbid psychiatric, neurological, and physical phenotypes. Recent evidence indicates that other variants in the genome, or 'other hits', may partially explain the variable expressivity of ND-CNVs. These may be other rare variants or the aggregated effects of common variants that modify NDD risk. Here we discuss the recent findings, current questions, and future challenges relating to other hits research in the context of ND-CNVs and their potential for improved clinical diagnostics and therapeutics for ND-CNV carriers.


Asunto(s)
Variaciones en el Número de Copia de ADN , Trastornos del Neurodesarrollo , Variaciones en el Número de Copia de ADN/genética , Predisposición Genética a la Enfermedad , Humanos , Trastornos del Neurodesarrollo/genética , Fenotipo
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA