Esther Lieberman

Mexico City, DIF, Mexico

Last Updated: 09/26/2026

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Found 8 publications

Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.

Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.

Journal: NPJ genomic medicine

Published: December 15, 2025

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.

Journal: Life (Basel, Switzerland)

Published: September 30, 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

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

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.

Journal: Gene

Published: June 26, 2018

Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.

Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.

Journal: Cornea

Published: June 08, 2018

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Journal: Molecular cytogenetics

Published: September 04, 2017

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Journal: Molecular cytogenetics

Published: July 11, 2014

Showing 1-8 of 8

Last Updated: 09/26/2026