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Article

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2017

Winters Lore, Van Hoof Evelien, De Catte Luc, Van Den Bogaert Kris, de Ravel Thomy, De Waele Liesbeth, Corveleyn Anniek, Breckpot Jeroen

Abstract excerpt

INTRODUCTION: 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. METHODS: An in-house...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28495245
DOI: 10.1016/j.ejpn.2017.04.641

Genes

RAPSN
PDHA1

Variants

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