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

O. Ortega-Recalde, O. I. Beltrán, J. M. Gálvez, A. Palma-Montero, C. M. Restrepo, H. E. Mateus, P. Laissue

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

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.
Original languageEnglish (US)
Pages (from-to)e1-e3
JournalClinical Genetics
DOIs
StatePublished - Oct 1 2015

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