Luz M. Huerta-Gonzalez

Mexico, MEX 06720, Mexico

Last Updated: 09/26/2026

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Found 24 publications

Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.

Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.

Journal: Genes

Published: February 28, 2025

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

Journal: Diseases (Basel, Switzerland)

Published: September 09, 2024

Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature.

Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature.

Journal: Cytogenetic and genome research

Published: April 20, 2024

New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

Journal: Biology

Published: January 26, 2024

Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.

Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.

Journal: Molecular syndromology

Published: October 14, 2022

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Title Not Found

Journal: Salud publica de Mexico

Published: July 01, 2022

Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome.

Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome.

Journal: Psychiatric genetics

Published: April 14, 2021

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Journal: Molecular syndromology

Published: February 19, 2021

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Journal: Ophthalmic genetics

Published: November 21, 2018

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.

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.

Journal: Pediatric dermatology

Published: March 24, 2018

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia.

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia.

Journal: Cornea

Published: October 13, 2017

A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.

A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.

Journal: Molecular syndromology

Published: February 04, 2016

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Last Updated: 09/26/2026