Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

Am J Med Genet A. 2015 Apr;167A(4):902-6. doi: 10.1002/ajmg.a.36811. Epub 2015 Feb 18.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Comparative Genomic Hybridization
  • Craniosynostoses / diagnostic imaging*
  • Craniosynostoses / genetics
  • Genetic Association Studies
  • Hedgehog Proteins / genetics*
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Radiography
  • Regulatory Sequences, Nucleic Acid

Substances

  • Hedgehog Proteins
  • IHH protein, human

Supplementary concepts

  • Craniosynostosis, Philadelphia Type