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We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. Click to show full abstract
We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene.
Keywords:
fetal akinesia;
mutations neb;
multiplex congenita;
neb gene;
arthrogryposis multiplex
Journal Title: Prenatal Diagnosis
Year Published: 2017
Link to full text (if available)
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Journal Title: Prenatal Diagnosis
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!