Novel trpv4 pathogenic variant in severe metatropic skeletal dysplasia: a case report

HIGHLIGHTS

• who: James D from the Department of Paediatric Orthopaedics, Christian Medical College, Vellore, India have published the Article: Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report, in the Journal: (JOURNAL)
• what: The authors report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p (Trp785Cys) with mesomelic shortening odontoid hypoplasia multiple joint contractures thoracolumbar kyphosis pectus carinatum halberd pelvis and dumb-bell shaped long bones. MD is a form of autosomal dominant skeletal dysplasia with TRPV4 mutation, and the authors report a recessive inheritance . . .
  

   

  

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