| Nombre | LUZ MARIA GONZALEZ HUERTA |
|---|---|
| Área | MEDICINA Y CIENCIAS DE LA SALUD |
| Campo | CIENCIAS MÉDICAS |
| Disciplina | BIOLOGÍA HUMANA |
| Especialidad | GENETICA |
| CVU | 201206 |
| Institución | |
|---|---|
| Dependencia | HOSPITAL GENERAL DE MEXICO "DR. EDUARDO LICEAGA" |
| Entidad | CIUDAD DE MEXICO |
| Nivel | 1 |
| Vigencia | Inicio: 01/01/2023 |
| Fin: 31/12/2027 |
Publicaciones ORCID
- 2026
- Variable Expressiveness of a Novel Pathogenic SETD1A Missense Variant Linked to FLOS Domain Haploinsufficiency in a Mexican Pedigree Diseases
- 2025
- Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans Genes
- 2021
- Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome. Psychiatric genetics
- 2020
- Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report. World journal of clinical cases
- 2018
- Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients. Ophthalmic genetics
- Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab. Pediatric dermatology
- Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. Cornea
- 2016
- Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract. Molecular syndromology
- A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype. Molecular syndromology
- 2015
- Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. Molecular syndromology