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.

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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
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