Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212.
No abstract available

MeSH terms

  • Child, Preschool
  • Craniofacial Dysostosis / diagnosis
  • Craniofacial Dysostosis / genetics*
  • Craniofacial Dysostosis / physiopathology
  • Diagnosis, Differential
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Karyotype
  • Micrognathism / diagnosis
  • Micrognathism / genetics*
  • Micrognathism / physiopathology
  • Mutation
  • Proteins / genetics*

Substances

  • MAGEL2 protein, human
  • Proteins

Supplementary concepts

  • Freeman-Sheldon syndrome