De novo 11q13.3q13.4 deletion in a patient with fanconi renotubular syndrome and intellectual disability: case report and review of literature

HIGHLIGHTS

• who: Yingxiao Shen et al. from the (UNIVERSITY) have published the Article: De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature, in the Journal: (JOURNAL)
• what: The authors report the identification of a 2.1 Mb deletion in chromosome 11q13.3q13.4 spanning from 69603687 to 71717599 in a child with global developmental delay, intellectual disability, Fanconi renotubular syndrome, hypophosphatemic rickets, and Chiari I malformation. The authors report a 2.11 Mb de novo deletion of chromosome 11q13.3-13.4 in . . .
  

   

  

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