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Medientyp:
E-Artikel
Titel:
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
Beteiligte:
Beygo, Jasmin;
Buiting, Karin;
Ramsden, Simon C.;
Ellis, Rachael;
Clayton-Smith, Jill;
Kanber, Deniz
Erschienen:
Springer Science and Business Media LLC, 2019
Erschienen in:
European Journal of Human Genetics, 27 (2019) 9, Seite 1326-1340
Sprache:
Englisch
DOI:
10.1038/s41431-019-0435-0
ISSN:
1018-4813;
1476-5438
Entstehung:
Anmerkungen:
Beschreibung:
<jats:title>Abstract</jats:title><jats:p>This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. It highlights the advantages and disadvantages of each method and moreover, is meant to facilitate the interpretation of the obtained results - leading to improved standardised reports.</jats:p>