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Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability Artículo académico uri icon

Abstracto

  • © 2015 John Wiley andamp; Sons A/S. Published by John Wiley andamp; 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.

fecha de publicación

  • 2015-10-1