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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Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
Assuntos:
Policy
Acceso en liña: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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