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 f...

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Detalles Bibliográficos
Autores Principales: "Ortega?Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma?Montero, A., Restrepo, C.M., Mateus, H.E., Laissue, P."
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Blackwell Publishing Ltd 2015
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/23680
https://doi.org/10.1111/cge.12634