Chronic granulomatous disease associated with duchenne muscular dystrophy caused by xp21.1 contiguous gene deletion syndrome: case report and literature review

HIGHLIGHTS

• who: January et al. from the ApconiX, United Kingdom University, Hefei, Anhui, China, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI have published the research: Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review, in the Journal: (JOURNAL)
• what: The authors report a neonatal case of CGD combined with DMD diagnosed through a genetic workup. The authors report a rare case of Xp21.1 contiguous gene deletion syndrome (Chr X: 30577566-38080045; SEQ del Xp21.2p11.4), confirmed by CNV-seq, presenting . . .
  

   

  

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