Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability Academic Article

abstract

  • © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth.

publication date

  • 2015/10/1

keywords

  • Exome
  • Genes
  • Genetic Association Studies
  • Intellectual Disability
  • Mutation

International Standard Serial Number (ISSN)

  • 0009-9163

start page

  • e1

end page

  • e3