Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
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DOI: 10.1002/pd.4977
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. read more here.
Keywords: fetal akinesia; mutations neb; multiplex congenita; neb gene ... See more keywords