Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant

Eur J Obstet Gynecol Reprod Biol. 2020 Jan;244:208-210. doi: 10.1016/j.ejogrb.2019.11.031. Epub 2019 Nov 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Agenesis of Corpus Callosum / embryology
  • Agenesis of Corpus Callosum / genetics*
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Maternal Inheritance / genetics*
  • Mosaicism*
  • Phenotype
  • Pregnancy
  • Syndrome

Substances

  • AHDC1 protein, human
  • DNA-Binding Proteins