Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Clin Dysmorphol. 2019 Oct;28(4):211-214. doi: 10.1097/MCD.0000000000000292.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Alopecia / diagnosis*
  • Alopecia / genetics*
  • Anodontia / diagnosis*
  • Anodontia / genetics*
  • Child
  • Chromosomes, Human, Pair 2 / genetics
  • Exome Sequencing
  • Facies*
  • Genetic Testing
  • Genotype
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Humans
  • Microfilament Proteins / genetics*
  • Mutation*
  • Optic Atrophies, Hereditary / diagnosis*
  • Optic Atrophies, Hereditary / genetics*
  • Phenotype*
  • Receptors, Cell Surface / genetics*
  • Uniparental Disomy / genetics*

Substances

  • ANTXR1 protein, human
  • Microfilament Proteins
  • Receptors, Cell Surface

Supplementary concepts

  • Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
  • Uniparental disomy of chromosome 2