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pro vyhledávání: '"Daphne, Chapmann"'
Autor:
Michal, Feingold-Zadok, David, Chitayat, Karen, Chong, Marie, Injeyan, Patrick, Shannon, Daphne, Chapmann, Ron, Maymon, Nir, Pillar, Orit, Reish
Publikováno v:
Prenatal diagnosis. 37(2)
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.We pathologically assessed seven cases from t