A null mutation of tnfrsf11a causes dysosteosclerosis, not osteopetrosis

HIGHLIGHTS

• who: TNFRSF and colleagues from the Division of Pediatric Endocrinology, DrBehu00e7et Uz Children`s Education and Research Hospital, Izmir, Turkey, Department of School of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey, Division of Pediatric Genetics, DrBehu00e7et Uz Children`s have published the research work: A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis, in the Journal: (JOURNAL)
• what: The study reports the first case of DOS caused by TNFRSF11A null mutations, which are previously considered to cause OPTB7.
• how: The variant the authors identified in this study leads to frameshift and premature termination in . . .
  

   

  

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