The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations

Clin Dysmorphol. 2017 Oct;26(4):247-251. doi: 10.1097/MCD.0000000000000169.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / abnormalities*
  • Bone and Bones / pathology
  • Brachydactyly / pathology
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology*
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology*
  • Facies
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Phenotype

Substances

  • Carrier Proteins
  • IFT140 protein, human

Supplementary concepts

  • Cranioectodermal Dysplasia