Identification of a novel splicing mutation and genotype-phenotype correlations in rare pls3-related childhood-onset osteoporosis

HIGHLIGHTS

• who: Zhichong Wu from the Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China have published the research: Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis, in the Journal: (JOURNAL)
• what: The authors identified a novel PLS3 splicing mutation in a patient with early-onset osteoporotic fracture and scoliosis.
• future: Studies were required to broaden the phenotypic spectrum and generate targeted treatments. Functional study should be performed to unveil the biological . . .
  

   

  

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