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

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Ortega?Recalde, O.
Beltrán, O.I.
Gálvez, J.M.
Palma?Montero, A.
Restrepo Fernández, Carlos Martín
Mateus, H.E.
Laissue, P.

Fecha
2015

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Blackwell Publishing Ltd

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Abstract
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. © 2015 John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.
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Allele , Article , human , human , Case report , Clinical feature , Colombian , Exome , Face dysmorphia , Female , Gene , Genotype phenotype correlation , Herc 1 gene , Human , Intellectual impairment , Male , Molecular diagnosis , Newborn , Pathogenesis , Priority journal , Sequence analysis , Sibling , Dna mutational analysis , Genetic association study , Genetics , Growth disorder , Human genome , Intellectual impairment , Mutation , Pathology , Syndrome , Guanine nucleotide exchange factor , Herc1 protein , Dna mutational analysis , Female , Genetic association studies , Genome , Growth disorders , Guanine nucleotide exchange factors , Humans , Intellectual disability , Male , Mutation , Syndrome , Exome sequencing , Herc1 mutations , Herc1 mutations , Intellectual disability , Overgrowth
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