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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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2019
Gaiak:
Article
Sarrera elektronikoa: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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