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...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2015
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/23680
- Acceso en línea:
- https://doi.org/10.1111/cge.12634
https://repository.urosario.edu.co/handle/10336/23680
- Palabra clave:
- 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
Intellectual impairment
Mutation
Pathology
Syndrome
Guanine nucleotide exchange factor
Dna mutational analysis
Female
Genetic association studies
Growth disorders
Guanine nucleotide exchange factors
Humans
Intellectual disability
Male
Mutation
Syndrome
Exome sequencing
Herc1 mutations
Herc1 mutations
Intellectual disability
Overgrowth
human
human
Herc1 protein
Genome
- Rights
- License
- Abierto (Texto Completo)