Silvina N. Capetillo-Contreras
Merida, YUC, Mexico
Last Updated: 09/26/2026
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Found 17 publications
Late Diagnosis of a 3p26.3p25.2 Microduplication in a Young Adult with Mild Neurodevelopmental Features: A Case Report and Literature Review.
Journal: Molecular syndromology
Published: November 13, 2025
LAMA2 Triple Variant in a Mexican Child with Congenital Muscular Dystrophy.
Journal: Annals of Indian Academy of Neurology
Published: September 19, 2025
The rare in the common: unsuspected Fabry disease in a large family with common diseases.
Journal: Gaceta medica de Mexico
Published: January 01, 2025
15q24 Duplication: A Case Report of Neurodevelopmental Delay.
Journal: Clinical pediatrics
Published: November 22, 2024
Loss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.
Journal: American journal of medical genetics. Part A
Published: November 20, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
Multidisciplinary management with neuromuscular electrical stimulation therapy in a Goldenhar syndrome patient who presented swallowing disorder and failure to thrive.
Journal: Boletin medico del Hospital Infantil de Mexico
Published: August 05, 2021
Case Report: Congenital Arthrogryposis and Unilateral Absences of Distal Arm in Congenital Zika Syndrome.
Journal: Frontiers in medicine
Published: September 18, 2019
Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico.
Journal: Molecular genetics and metabolism reports
Published: July 29, 2019
Zika Virus Infection in Pregnant Women, Yucatan, Mexico.
Journal: Emerging infectious diseases
Published: July 17, 2019
Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school-aged children with obesity/overweight and with normal weight.
Journal: American journal of human biology : the official journal of the Human Biology Council
Published: June 04, 2018
Last Updated: 09/26/2026