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Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries
The monogenic etiology of most severe fetal anomaly syndromes is poorly understood. Our objective was to use exome sequencing (ES) to increase our knowledge on causal variants and novel candidate genes associated with specific fetal phenotypes. We employed ES in a cohort of 19 families with one or m...
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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer International Publishing
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6461982/ https://ncbi.nlm.nih.gov/pubmed/30679815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0324-y |
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