Camilo E. Villarroel

Mexico City, DIF, Mexico

Last Updated: 09/26/2026

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Found 13 publications

Expanding the Genetic and Clinical Spectrum of GZF1 -Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome.

Expanding the Genetic and Clinical Spectrum of GZF1 -Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome.

Journal: American journal of medical genetics. Part A

Published: August 12, 2025

Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.

Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: December 24, 2024

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.

Journal: Frontiers in genetics

Published: September 13, 2023

Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.

Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.

Journal: Reproductive sciences (Thousand Oaks, Calif.)

Published: May 05, 2023

Frequent copy number variants in a cohort of Mexican-Mestizo individuals.

Frequent copy number variants in a cohort of Mexican-Mestizo individuals.

Journal: Molecular cytogenetics

Published: November 01, 2022

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.

Journal: Molecular syndromology

Published: April 05, 2022

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.

Journal: Molecular genetics and metabolism reports

Published: April 30, 2021

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

Journal: European journal of medical genetics

Published: November 09, 2020

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Journal: Molecular cytogenetics

Published: May 30, 2020

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

Journal: European journal of medical genetics

Published: July 03, 2019

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Journal: Journal of human genetics

Published: May 29, 2018

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Journal: American journal of human genetics

Published: May 22, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026