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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Authors :
Beygo J
Buiting K
Ramsden SC
Ellis R
Clayton-Smith J
Kanber D
Source :
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Sep; Vol. 27 (9), pp. 1326-1340. Date of Electronic Publication: 2019 Jun 24.
Publication Year :
2019

Abstract

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.

Details

Language :
English
ISSN :
1476-5438
Volume :
27
Issue :
9
Database :
MEDLINE
Journal :
European journal of human genetics : EJHG
Publication Type :
Academic Journal
Accession number :
31235867
Full Text :
https://doi.org/10.1038/s41431-019-0435-0