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

Resultado de la investigación: Contribución a RevistaArtículo

11 Citas (Scopus)

Resumen

© 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.
Idioma originalEnglish (US)
Páginas (desde-hasta)e1-e3
PublicaciónClinical Genetics
DOI
EstadoPublished - oct 1 2015

Huella dactilar

Exome
Genetic Association Studies
Intellectual Disability
Mutation
Genes

Citar esto

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

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. / Ortega-Recalde, O.; Beltrán, O. I.; Gálvez, J. M.; Palma-Montero, A.; Restrepo, C. M.; Mateus, H. E.; Laissue, P.

En: Clinical Genetics, 01.10.2015, p. e1-e3.

Resultado de la investigación: Contribución a RevistaArtículo

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AU - Ortega-Recalde, O.

AU - Beltrán, O. I.

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AU - Mateus, H. E.

AU - Laissue, P.

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AB - © 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.

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Ortega-Recalde O, Beltrán OI, Gálvez JM, Palma-Montero A, Restrepo CM, Mateus HE y otros. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clinical Genetics. 2015 oct 1;e1-e3. https://doi.org/10.1111/cge.12634