Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders

Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microduplication syndromes, but variants of unknown clinica...

Descripción completa

Detalles Bibliográficos
Autores principales: Krgovic, Danijela, Kokalj Vokac, Nadja, Zagorac, Andreja, Gregoric Kumperscak, Hojka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013431/
https://www.ncbi.nlm.nih.gov/pubmed/29930340
http://dx.doi.org/10.1038/s41598-018-27824-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013431/
https://www.ncbi.nlm.nih.gov/pubmed/29930340
http://dx.doi.org/10.1038/s41598-018-27824-0

Ejemplares similares