Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
Abstract Background The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this information to opt for fetal genotyping in subsequ...
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| Hoofdauteurs: | , , , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMC
2020-05-01
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| Reeks: | BMC Medical Genomics |
| Online toegang: | http://link.springer.com/article/10.1186/s12920-020-0714-1 |
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