A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

Am J Med Genet A. 2016 Sep;170(9):2436-9. doi: 10.1002/ajmg.a.37823. Epub 2016 Jun 29.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Founder Effect
  • Growth Disorders / diagnostic imaging
  • Growth Disorders / genetics
  • Hernia / diagnostic imaging
  • Hernia / genetics
  • Homozygote*
  • Humans
  • Infant
  • Joint Instability / diagnostic imaging
  • Joint Instability / genetics
  • Male
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Mitochondrial Proteins / genetics*
  • Mutation*
  • Phenotype*
  • Psychomotor Disorders / diagnostic imaging
  • Psychomotor Disorders / genetics
  • Survival Analysis

Substances

  • Mitochondrial Precursor Protein Import Complex Proteins
  • Mitochondrial Proteins
  • PAM16 protein, human

Supplementary concepts

  • Megarbane syndrome