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Publication
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
Journal Contribution - Journal Article
Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting.
Journal: European Journal of Paediatric Neurology
ISSN: 1090-3798
Issue: 5
Volume: 21
Pages: 745 - 753
Publication year:2017
BOF-keylabel:yes
IOF-keylabel:yes
BOF-publication weight:1
CSS-citation score:1
Authors from:Higher Education
Accessibility:Closed