Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
Author:
Funder
University Hospitals Leuven
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference45 articles.
1. Arthrogryposis and fetal hypomobility syndrome;Haliloglu;Handb Clin Neurol,2013
2. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited;Hall;Birth Defects Res A Clin Mol Teratol,2009
3. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature;Smigiel;Am J Med Genet A,2010
4. Fetal akinesia: review of the genetics of the neuromuscular causes;Ravenscroft;J Med Genet,2011
5. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth;Todd;Orphanet J Rare Dis,2015
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