A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis

Clin Dysmorphol. 2022 Apr 1;31(2):71-73. doi: 10.1097/MCD.0000000000000401.
No abstract available

MeSH terms

  • Craniofacial Abnormalities
  • Dwarfism*
  • Fetus
  • Genital Diseases, Male
  • Humans
  • Limb Deformities, Congenital* / diagnosis
  • Limb Deformities, Congenital* / genetics
  • Male
  • Penis / abnormalities
  • Urogenital Abnormalities
  • Wnt-5a Protein / genetics

Substances

  • WNT5A protein, human
  • Wnt-5a Protein

Supplementary concepts

  • Penis agenesis
  • Robinow Syndrome