Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9

Congenit Anom (Kyoto). 2020 Sep;60(5):153-155. doi: 10.1111/cga.12371. Epub 2020 Apr 16.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 9*
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Craniosynostoses / diagnosis*
  • Craniosynostoses / genetics*
  • DNA Copy Number Variations
  • DNA Mutational Analysis
  • Female
  • Genomics / methods
  • Homozygote*
  • Humans
  • Infant
  • Interleukin-11 Receptor alpha Subunit / genetics*
  • Maternal Inheritance
  • Phenotype
  • Tomography, Spiral Computed
  • Uniparental Disomy*

Substances

  • IL11RA protein, human
  • Interleukin-11 Receptor alpha Subunit