Identification of a novel nonsense mutation in pla2g6 and prenatal diagnosis in a chinese family with infantile neuroaxonal dystrophy

HIGHLIGHTS

• who: Yanqiu Liu from the Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China University College London have published the research: Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy, in the Journal: (JOURNAL)
• what: The authors aimed to identify the underlying causative genetic factors of a Chinese family with two siblings who presented with walking difficulty and inability to speak. The authors describe how providing accurate genetic counseling in the light of pathogenic findings in the fetus led to a decision . . .
  

   

  

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