Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome

J Obstet Gynaecol. 2022 Apr;42(3):524-526. doi: 10.1080/01443615.2021.1916895. Epub 2021 Jun 23.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Extremities / pathology
  • Female
  • Fertilization in Vitro
  • Heart Defects, Congenital* / genetics
  • Heart Septal Defects, Atrial
  • Humans
  • Lower Extremity Deformities, Congenital
  • Mutation
  • Pregnancy
  • T-Box Domain Proteins / genetics
  • Upper Extremity Deformities, Congenital* / genetics
  • Upper Extremity Deformities, Congenital* / pathology

Substances

  • T-Box Domain Proteins
  • T-box transcription factor 5

Supplementary concepts

  • Holt-Oram syndrome