دورية أكاديمية
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability
| العنوان: | Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
|---|---|
| المؤلفون: | Ortega?Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma?Montero, A., Restrepo, Carlos M., Mateus, H.E., Laissue, P. |
| المصدر: | instname:Universidad del Rosario |
| بيانات النشر: | Blackwell Publishing Ltd |
| سنة النشر: | 2015 |
| المجموعة: | Universidad del Rosario, Bogotá: E-docUR |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 00099163 13990004 |
| العلاقة: | https://repository.urosario.edu.co/handle/10336/23680Test; https://doi.org/10.1111/cge.12634Test |
| DOI: | 10.1111/cge.12634 |
| الإتاحة: | https://doi.org/10.1111/cge.12634Test https://repository.urosario.edu.co/handle/10336/23680Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E7F826BD |
| قاعدة البيانات: | BASE |
| تدمد: | 00099163 13990004 |
|---|---|
| DOI: | 10.1111/cge.12634 |