Unlocking the genetic complexity of congenital hydrocephalus

Unlocking the genetic complexity of congenital hydrocephalus

Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the disease.

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Nature medicine 2020-11, Vol.26 (11), p.1682-1683
1. Verfasser: Ross, M. Elizabeth
Format: Artikel
Sprache:eng
Schlagworte:
631/208/205
692/617/375/240
Biomedical and Life Sciences
Biomedicine
Birth defects
Cancer Research
Exome
Female
Gene mutations
Gene sequencing
Genetic aspects
Genomes
Health aspects
Humans
Hydrocephalus
Hydrocephalus - genetics
Infectious Diseases
Metabolic Diseases
Molecular Medicine
Mutation
Neurosciences
News & Views
news-and-views
Pregnancy
Risk factors
Whole Exome Sequencing
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the disease.
ISSN:1078-8956
1546-170X
DOI:10.1038/s41591-020-1120-0