Author:
Beygo Jasmin,Buiting Karin,Ramsden Simon C.,Ellis Rachael,Clayton-Smith Jill,Kanber Deniz
Abstract
AbstractThis 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.
Funder
Bundesministerium für Bildung und Forschung
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference79 articles.
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4. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, et al. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet. 1995;56:237–8.
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