Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
- Winters, Lore
- Van Hoof, Evelien
- De Catte, Luc
- Van Den Bogaert, Kris
- de Ravel de l'Argentière, Thomy
- De Waele LMH, Liesbeth
- Corveleyn, Anniek
- Breckpot, Jeroen
Publication date
September 2017
DOI Publisher
Saunders ISSN
1090-3798 Journal
issn:1532-2130 Citation count (estimate)
1Abstract
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.status: publishe
Add to ORKG