Loss of protein function causing severe phenotypes of female-restricted wieacker wolff syndrome due to a novel nonsense mutation in the zc4h2 gene

HIGHLIGHTS

• who: Jing-Jing Sun et al. from the Shanghai Institute of Medical Genetics, Shanghai Children`s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China have published the research work: Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene, in the Journal: Genes 2022, 13, 1558. of /2022/
• what: A novel nonsense_mutation of ZC4H2 c.352C>T (p.Gln118*) was identified in a female patient suffering from WRWFFR, and this mutation was shown to lead to the loss of protein . . .
  

   

  

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