A novel c.64g > t (p.g22c)

HIGHLIGHTS

• who: Dan Zhang from the (UNIVERSITY) have published the research work: A novel c.64Gu2009>u2009T (p.G22C), in the Journal: (JOURNAL)
• what: The authors implemented both the classic and new approach in parallel for the diagnosis of 46,XY DSD in an adolescent resulting from a c.64G > T (p.G22C) NR5A1 variant.
• how: The authors implemented both approaches in parallel in the diagnosis of a Chinese adolescent with 46XY DSD. As chromosome microdeletion and microduplication are pathogenic factors associated with DSD the copy number variation sequencing (CNV-seq) was performed firstly . . .
  

   

  

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