Jaime Lopez-Toral
AV Del Trabajo S/N, Col. El Carmen
Ecatepec, MEX 55000, Mexico
Ecatepec, MEX 55000, Mexico
Last Updated: 09/26/2026
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Found 8 publications
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.
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.
Journal: Cytogenetic and genome research
Published: April 20, 2024
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.
Journal: Molecular syndromology
Published: October 14, 2022
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.
Journal: World journal of clinical cases
Published: July 13, 2020
A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
Journal: Cytogenetic and genome research
Published: February 19, 2015
Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III.
Journal: Journal of pediatric genetics
Published: March 01, 2013
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Last Updated: 09/26/2026