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

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

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...

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Detalles Bibliográficos
Autores Principales:	Ortega?Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma?Montero, A., Restrepo, Carlos M., Mateus, H.E., Laissue, P.
Formato:	Artículo (Article)
Lenguaje:	Inglés (English)
Publicado:	Blackwell Publishing Ltd 2015
Materias:	Allele Article 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 Mutation Pathology Syndrome Guanine nucleotide exchange factor Genetic association studies Growth disorders Guanine nucleotide exchange factors Humans Intellectual disability Exome sequencing Herc1 mutations Overgrowth human Herc1 protein Genome
Acceso en línea:	https://repository.urosario.edu.co/handle/10336/23680 https://doi.org/10.1111/cge.12634

Internet

https://repository.urosario.edu.co/handle/10336/23680
https://doi.org/10.1111/cge.12634

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

Internet

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