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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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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
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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