Mutaciones bialélicas en HERC1 en una forma sindrómica de sobrecrecimiento y retraso mental Thesis

short description

  • Master's thesis

Thesis author

  • Palma Montenegro , María Alejandra

external tutor

  • Laissue, Paul


  • We report two Colombian siblings affected by overgrowth,intellectual disability and facial dysmorphism. Exome (viaNGS) and Sanger sequencing revealed that biallelic sequencevariants in a novel gene (HERC1) might be related to thedisease pathogenesis. These results provide useful data forfuture genotype–phenotype correlations and for a moleculardiagnosis of overgrowth.

publication date

  • January 18, 2018 8:18 PM


  • Exome sequencing
  • HERC1 mutations
  • Intellectual disability
  • Overgrowth

Document Id

  • 08bcc403-ec7a-49dc-8839-1715107eccf5