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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Meier, Nicole, Bruder, Elisabeth, Lapaire, Olav, Hoesli, Irene, Kang, Anjeung, Hench, Jürgen, Hoeller, Sylvia, De Geyter, Julie, Miny, Peter, Heinimann, Karl, Chaoui, Rabih, Tercanli, Sevgi, Filges, Isabel
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha: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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