Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India

Congenit Anom (Kyoto). 2021 Jul;61(4):140-141. doi: 10.1111/cga.12414. Epub 2021 Mar 23.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Humans
  • Hyaline Fibromatosis Syndrome / diagnosis*
  • Hyaline Fibromatosis Syndrome / genetics*
  • India
  • Infant
  • Mutation*
  • Phenotype
  • Receptors, Peptide / genetics*

Substances

  • ANTXR2 protein, human
  • Receptors, Peptide