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

doi:10.1111/cge.12634

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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© 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 original	Inglés estadounidense
Páginas (desde-hasta)	e1-e3
Publicación	Clinical Genetics
Volumen	88
N.º	4
DOI	https://doi.org/10.1111/cge.12634
Estado	Publicada - oct. 1 2015

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abstract = "{\textcopyright} 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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AU - Palma-Montero, A.

AU - Restrepo, C. M.

AU - Mateus, H. E.

AU - Laissue, P.

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N2 - © 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.

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

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