EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorde...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Policy
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027690/
https://ncbi.nlm.nih.gov/pubmed/27165005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.45
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