A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta

Indian J Pediatr. 2023 Jun;90(6):626. doi: 10.1007/s12098-023-04541-9. Epub 2023 Mar 30.
No abstract available

Publication types

  • Letter

MeSH terms

  • Humans
  • Mutation
  • Osteogenesis Imperfecta* / genetics
  • Osteonectin / genetics
  • RNA Splice Sites / genetics

Substances

  • RNA Splice Sites
  • SPARC protein, human
  • Osteonectin