Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delive...

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Autori principali: Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598323/
https://ncbi.nlm.nih.gov/pubmed/23032112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.198
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