ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype

Congenit Anom (Kyoto). 2021 Jan;61(1):25-26. doi: 10.1111/cga.12391. Epub 2020 Sep 15.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • Anoctamins / genetics*
  • Biomarkers
  • Bone Density
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Heterozygote
  • Humans
  • India
  • Male
  • Mutation
  • Osteogenesis Imperfecta / diagnosis*
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / metabolism
  • Phenotype*
  • Skull / abnormalities*
  • Tomography, X-Ray Computed

Substances

  • ANO5 protein, human
  • Anoctamins
  • Biomarkers

Supplementary concepts

  • Osteogenesis imperfecta, Levin type