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

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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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Ortega-Recalde, O., Beltrán, O. I., Gálvez, J. M., Palma-Montero, A., Restrepo, C. M., Mateus, H. E., & Laissue, P. (2015). Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clinical Genetics, e1-e3. https://doi.org/10.1111/cge.12634