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Prenatal diagnosis of X-linked myopathy associated with a <i>VMA21</i> gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings

Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings

Konialis, Christopher; Assimakopoulos, Efstratios; Hagnefelt, Birgitta; Karapanou, Sophia; Sotiriadis, Alexandros; Pangalos, Constantinos
  • 期刊名称Clinical Case Reports
  • 作者Konialis, Christopher; Assimakopoulos, Efstratios; Hagnefelt, Birgitta; Karapanou, Sophia; Sotiriadis, Alexandros; Pangalos, Constantinos
  • 卷第5卷
  • 期第3期
  • 印刷ISSN2050-0904
  • 文件大小506.78KB
  • 发表时间2017-03
  • DOI10.1002/ccr3.822
  • 页码308-311
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