Nephrogenic diabetes insipidus results from a novel in-frame deletion of avpr2 gene in monozygotic-twin boys and their mother and grandmother

HIGHLIGHTS

• What: The authors report a novel variant of the p.H138del in an NDI family with twin male patients and three female carriers of different clinical phenotypes.
• Who: Shengfang Qin from the Children`s Hospital of Chengdu Medical College, Chengdu, Sichuan, China have published the research: Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother, in the Journal: (JOURNAL)
• How: The electrophoresis was carried out using the ABI 3500Dx gene analyzer and the data were analyzed using GeneMapper software 5 . . .
  

   

  

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