Paulo A. Borjas-Mendoza

Pediatrics | Medical Genetics

2500 N State St
Jackson, MS 39216

Last Updated: 09/26/2026

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Found 3 publications

Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.

Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.

Journal: American journal of medical genetics. Part A

Published: August 18, 2023

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Journal: American journal of medical genetics. Part A

Published: October 21, 2022

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.

Journal: Genes

Published: September 10, 2022

Showing 1-3 of 3

Last Updated: 09/26/2026