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

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

38 Citas (Scopus)

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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 - Ortega-Recalde, O.

AU - Beltrán, O. I.

AU - Gálvez, J. M.

AU - Palma-Montero, A.

AU - Restrepo, C. M.

AU - Mateus, H. E.

AU - Laissue, P.

PY - 2015/10/1

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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.

U2 - 10.1111/cge.12634

DO - 10.1111/cge.12634

M3 - Research Article

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SN - 0009-9163

VL - 88

SP - e1-e3

JO - Clinical Genetics

JF - Clinical Genetics

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

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