Mosaicism and prenatal diagnosis options: insights from retinoblastoma

In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On the other hand, a pre-zygotic mutation transmitted by an unaffected mosaic p...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Short Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5315511/
https://ncbi.nlm.nih.gov/pubmed/28000698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.174
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