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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| Veröffentlicht in: | Nature medicine 2020-11, Vol.26 (11), p.1682-1683 |
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| container_issue | 11 |
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| container_title | Nature medicine |
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| creator | Ross, M. Elizabeth |
| description | Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the disease. |
| doi_str_mv | 10.1038/s41591-020-1120-0 |
| format | Article |
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| source | MEDLINE; Nature; Alma/SFX Local Collection |
| subjects | 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 |
| title | Unlocking the genetic complexity of congenital hydrocephalus |
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