Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta

Clin Genet. 2022 Sep;102(3):242-243. doi: 10.1111/cge.14172. Epub 2022 Jun 15.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Morphogenetic Protein 1 / genetics
  • Collagen Type I / genetics
  • Genes, Recessive
  • Humans
  • Inheritance Patterns
  • Mutation
  • Osteogenesis Imperfecta* / genetics

Substances

  • Collagen Type I
  • BMP1 protein, human
  • Bone Morphogenetic Protein 1