Case report: identification and clinical phenotypic analysis of novel mutation of the ppp1cb gene in nslh2 syndrome

HIGHLIGHTS

• who: Jing Ma and Yun Liu from the Yunnan University of Chinese Medicine, China have published the paper: Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome, in the Journal: (JOURNAL) of July/14,/2020
• what: The authors report a novel variant c.371A>G in exon 3 of the PPP1CB gene in a young pediatric patient with NSLH2.
• how: The sequencing results showed that the child carried the c.371A>G (exon 3) mutation in PPP1CB. In 2020 a study used rhGH to treat . . .
  

   

  

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