Gustavo A. Garcia-Contreras

SAN, Colombia

Last Updated: 09/26/2026

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Found 16 publications

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Journal: Archivos argentinos de pediatria

Published: May 19, 2026

Complex Congenital Heart Disease and Neurodevelopment. A Case Study of Fraternal Twins.

Complex Congenital Heart Disease and Neurodevelopment. A Case Study of Fraternal Twins.

Journal: Developmental neuropsychology

Published: May 04, 2022

Neurodevelopmental outcome of infants without central nervous system anomalies born to symptomatic RT-PCR ZIKV positive women.

Neurodevelopmental outcome of infants without central nervous system anomalies born to symptomatic RT-PCR ZIKV positive women.

Journal: PLoS neglected tropical diseases

Published: September 21, 2021

Fetal central nervous system anomalies according to RT-PCR and trimester of maternal infection with Zika virus: A prospective cohort study.

Fetal central nervous system anomalies according to RT-PCR and trimester of maternal infection with Zika virus: A prospective cohort study.

Journal: Acta obstetricia et gynecologica Scandinavica

Published: July 14, 2021

45,X/46,XY Mosaicism with Male Phenotype: Case Report.

45,X/46,XY Mosaicism with Male Phenotype: Case Report.

Journal: Urologia internationalis

Published: May 13, 2021

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 10, 2021

WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report

WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report

Journal: Archivos argentinos de pediatria

Published: August 12, 2018

17-hydroxiprogesterone values in healthy preterm infants.

17-hydroxiprogesterone values in healthy preterm infants.

Journal: Colombia medica (Cali, Colombia)

Published: April 18, 2018

Late infantile metachromatic leukodystrophy: case report

Late infantile metachromatic leukodystrophy: case report

Journal: Archivos argentinos de pediatria

Published: February 28, 2018

Congenital microcephaly: A diagnostic challenge during Zika epidemics.

Congenital microcephaly: A diagnostic challenge during Zika epidemics.

Journal: Travel medicine and infectious disease

Published: December 02, 2017

Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case

Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case

Journal: Archivos argentinos de pediatria

Published: September 17, 2016

Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report

Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report

Journal: Revista chilena de pediatria

Published: June 30, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026